#!/usr/bin/env perl # # Author: petr.danecek@sanger # use strict; use warnings; use Carp; use Vcf; my $opts = parse_params(); read_data($opts); exit; #-------------------------------- sub error { my (@msg) = @_; if ( scalar @msg ) { confess @msg; } die "Usage: vcf-query [OPTIONS] file.vcf.gz\n", "Options:\n", " -c, --columns List of comma-separated column names or one column name per line in a file.\n", " -f, --format The default is '%CHROM:%POS\\t%REF[\\t%SAMPLE=%GT]\\n'\n", " -l, --list-columns List columns.\n", " -r, --region chr:from-to Retrieve the region. (Runs tabix.)\n", " --use-old-method Use old version of API, which is slow but more robust.\n", " -h, -?, --help This help message.\n", "Expressions:\n", " %CHROM The CHROM column (similarly also other columns)\n", " %GT Translated genotype (e.g. C/A)\n", " %GTR Raw genotype (e.g. 0/1)\n", " %INFO/TAG Any tag in the INFO column\n", " %LINE Prints the whole line\n", " %SAMPLE Sample name\n", " [] The brackets loop over all samples\n", " %* All format fields printed as KEYVALUE\n", "Examples:\n", " vcf-query file.vcf.gz 1:1000-2000 -c NA001,NA002,NA003\n", " vcf-query file.vcf.gz -r 1:1000-2000 -f '%CHROM:%POS\\t%REF\\t%ALT[\\t%SAMPLE:%*=,]\\n'\n", " vcf-query file.vcf.gz -f '[%GT\\t]%LINE\\n'\n", " vcf-query file.vcf.gz -f '[%GT\\ ]%LINE\\n'\n", " vcf-query file.vcf.gz -f '%CHROM\\_%POS\\t%INFO/DP\\t%FILTER\\n'\n", "\n"; } sub parse_params { my $opts = { columns=>'', format_string=>"%CHROM:%POS\t%REF[\t%SAMPLE=%GT]\n" }; while (defined(my $arg=shift(@ARGV))) { if ( $arg eq '--use-old-method' ) { $$opts{use_old_method}=1; next } if ( $arg eq '-f' || $arg eq '--format' ) { $$opts{format_string}=shift(@ARGV); next } if ( $arg eq '-c' || $arg eq '--columns' ) { $$opts{columns}=shift(@ARGV); next } if ( $arg eq '-l' || $arg eq '--list-columns' ) { $$opts{list_columns}=1; next } if ( $arg eq '-r' || $arg eq '--region' ) { $$opts{region}=shift(@ARGV); next } if ( -e $arg or $arg=~m{^(?:ftp|http)://} ) { $$opts{file}=$arg; next; } if ( $arg eq '-?' || $arg eq '-h' || $arg eq '--help' ) { error(); } if ( !exists($$opts{region}) && exists($$opts{file}) && ($arg=~/^[^:]+:[0-9,]+-[0-9,]+$/ or $arg=~/^[^\:]+$/) ) { $$opts{region}=$arg; next; } error("Unknown parameter or non-existent file \"$arg\". Run -h for help.\n"); } if ( !exists($$opts{file}) && exists($$opts{region}) ) { error("The region cannot be used when streaming the file.\n"); } if ( exists($$opts{columns}) && -e $$opts{columns} ) { my @cols; open(my $fh,'<',$$opts{columns}) or error("$$opts{columns}: $!"); while (my $line=<$fh>) { if ( $line=~/^\s*$/ ) { next; } $line =~ s/^\s*//; $line =~ s/\s*$//; push @cols, $line; } close($fh); $$opts{columns} = join(',', @cols); } return $opts; } sub parse_format_string { my ($str,$hash) = @_; my (@arr,%idx,$join1,$join2); $str =~ s/\\n/\n/g; $str =~ s/\\t/\t/g; while ($str) { if ( !($str=~/%/) ) { push @arr,$str; last; } my $before = $`; $str = $'; my $match; if ( $str=~/^[*](.)(.)/ ) { $match = '*'; $join1=$1; $join2=$2; } elsif ( $str=~m{([A-Za-z0-9/_]+)} ) { $match = $1; } else { error("FIXME: $str"); } if ( defined $before && $before ne '' ) { push @arr,$before; } push @arr,'.'; # If the tag is not present in the VCF, a missing value ('.') will be printed instead. if ( exists($idx{$match}) ) { warn("The tag \"$match\" given multiple times, only the last occurance will be used\n"); } $idx{$match} = $#arr; $str = $'; } for (my $i=0; $i<@arr; $i++) { $arr[$i] =~ s/\\{1}//g; } $$hash{format} = \@arr; $$hash{idx} = \%idx; $$hash{join1} = $join1; $$hash{join2} = $join2; } sub parse_format { my ($opts,$cols) = @_; $$opts{before} = {}; $$opts{repeat} = {}; $$opts{after} = {}; my ($before,$repeat,$after); my $str = $$opts{format_string}; $before = $str; if ( $str=~/\[([^\]]+)\]/ ) { $before = $`; $repeat = $1; $after = $'; } if ( $before ) { parse_format_string($before,$$opts{before}); } if ( $repeat ) { parse_format_string($repeat,$$opts{repeat}); } if ( $after ) { parse_format_string($after,$$opts{after}); } } sub copy_array { my ($arr) = @_; my @out; for my $item (@$arr) { push @out,$item; } return @out; } sub get_columns { my ($vcf) = @_; my @cols = (); my $ncols = @{$$vcf{columns}}; for (my $i=9; $i<$ncols; $i++) { push @cols, $$vcf{columns}[$i]; } return \@cols; } sub get_sample_idxs { my ($vcf,@samples) = @_; my @idxs; for my $sample (@samples) { if ( !exists($$vcf{has_column}{$sample}) ) { error("No such sample: [$sample]\n"); } push @idxs, $$vcf{has_column}{$sample} - 1; } return @idxs; } sub list_columns { my ($opts) = @_; my $cols = get_columns($$opts{vcf}); for my $col (@$cols) { print "$col\n"; } } sub read_data { my ($opts) = @_; if ( exists($$opts{use_old_method}) ) { read_data_slow_hash($opts); return; } my %args = ( print_header=>1 ); if ( $$opts{region} ) { $args{region} = $$opts{region}; } if ( exists($$opts{file}) ) { $args{file} = $$opts{file}; } else { $args{fh} = \*STDIN; } my $vcf = Vcf->new(%args); $$opts{vcf} = $vcf; $vcf->parse_header(); if ( $$opts{list_columns} ) { list_columns($opts); exit; } my @cols = split(/,/,$$opts{columns}); if ( !@cols ) { @cols = @{get_columns($$opts{vcf})}; } my @sample_idxs = get_sample_idxs($$opts{vcf},@cols); # The hash opts will be filled with the keys 'before','repeat','after' with formatting information parse_format($opts); while (my $line=$vcf->next_line()) { my $x = $vcf->next_data_array($line); # Fill everything what comes before the repeat [] if ( $$opts{before} ) { my (@out) = copy_array($$opts{before}{format}); while (my ($fieldname,$idx) = each %{$$opts{before}{idx}}) { if ( $fieldname eq 'LINE' ) { chomp($line); $out[$idx] = $line; } elsif ( exists($$vcf{has_column}{$fieldname}) ) { $out[$idx] = $$x[$$vcf{has_column}{$fieldname}-1]; } elsif ( substr($fieldname,0,5) eq 'INFO/' ) { $out[$idx] = $vcf->get_info_field($$x[7],substr($fieldname,5)); } } for (my $i=0; $i<@out; $i++) { if (!defined($out[$i])) { $out[$i]='.'; } } print join('',@out); } # Fill the repeaty stuff (the sample columns) if ( $$opts{repeat} ) { my @repeats; for my $sample_idx (@sample_idxs) { push @repeats, [ copy_array($$opts{repeat}{format}) ]; } my @alt; if ( exists($$opts{repeat}{idx}{GT}) ) { @alt = split(/,/,$$x[4]); } while (my ($fieldname,$idx) = each %{$$opts{repeat}{idx}}) { if ( $fieldname eq '*' ) { my $sep1 = $$opts{repeat}{join1}; my $sep2 = $$opts{repeat}{join2}; my @fmt = split(/:/,$$x[8]); for (my $i=0; $i<@sample_idxs; $i++) { my $sample_idx = $sample_idxs[$i]; my @tmp; my $j = 0; for my $value (split(/:/,$$x[$sample_idx])) { push @tmp, $fmt[$j++].$sep1.$value; } $repeats[$i][$idx] = join($sep2,@tmp); } next; } my $fmt_idx = $vcf->get_tag_index($$x[8],$fieldname eq 'GTR' ? 'GT' : $fieldname,':'); for (my $i=0; $i<@sample_idxs; $i++) { my $sample_idx = $sample_idxs[$i]; if ( $fmt_idx!=-1 ) { my $value = $vcf->get_field($$x[$sample_idx],$fmt_idx); if ( $fieldname eq 'GT' ) { $value = $vcf->decode_genotype($$x[3],\@alt,$value); } $repeats[$i][$idx] = $value; } } } if ( exists($$opts{repeat}{idx}{SAMPLE}) ) { my $idx = $$opts{repeat}{idx}{SAMPLE}; for (my $i=0; $i<@cols; $i++) { $repeats[$i][$idx] = $cols[$i] } } for my $repeat (@repeats) { for (my $i=0; $i<@$repeat; $i++) { if (!defined($$repeat[$i])) { $$repeat[$i]='.'; } } print join('',@$repeat); } } # Fill everything what comes after the repeat ([]) if ( $$opts{after} ) { my (@out) = copy_array($$opts{after}{format}); while (my ($fieldname,$idx) = each %{$$opts{after}{idx}}) { if ( $fieldname eq 'LINE' ) { chomp($line); $out[$idx] = $line; } elsif ( exists($$vcf{has_column}{$fieldname}) ) { $out[$idx] = $$x[$$vcf{has_column}{$fieldname}-1]; } elsif ( substr($fieldname,0,5) eq 'INFO/' ) { $out[$idx] = $vcf->get_info_field($$x[7],substr($fieldname,5)); } } for (my $i=0; $i<@out; $i++) { if (!defined($out[$i])) { $out[$i]='.'; } } print join('',@out); } } } sub read_data_slow_hash { my ($opts) = @_; my %args = ( print_header=>1 ); if ( $$opts{region} ) { $args{region} = $$opts{region}; } if ( exists($$opts{file}) ) { $args{file} = $$opts{file}; } else { $args{fh} = \*STDIN; } my $vcf = Vcf->new(%args); $$opts{vcf} = $vcf; $vcf->parse_header(); if ( $$opts{list_columns} ) { list_columns($opts); exit; } my @cols = split(/,/,$$opts{columns}); if ( !@cols ) { @cols = @{get_columns($$opts{vcf})}; } # The hash opts will be filled with the keys 'before','repeat','after' with formatting information parse_format($opts); while (my $line=$vcf->next_line()) { my $x=$vcf->next_data_hash($line); # Fill everything what comes before the repeat [] # Code repetition and not very nice, should be changed at some point... if ( $$opts{before} ) { my (@out) = copy_array($$opts{before}{format}); while (my ($colname,$idx) = each %{$$opts{before}{idx}}) { if ( $colname eq 'LINE' ) { chomp($line); $out[$idx] = $line; next; } if ( $colname eq 'ALT' ) { $out[$idx] = join(',',@{$$x{ALT}}); next; } if ( $colname eq 'FILTER' ) { $out[$idx] = join(';',@{$$x{FILTER}}); next; } if ( $colname=~m{INFO/(.+)} ) { if ( exists($$x{INFO}{$1}) && !defined($$x{INFO}{$1}) ) { # It is a flag $out[$idx] = 'True'; } else { $out[$idx] = $$x{INFO}{$1}; } next; } if ( exists($$x{$colname}) ) { $out[$idx] = $$x{$colname}; } } for (my $i=0; $i<@out; $i++) { if (!defined($out[$i])) { $out[$i]='.'; } } print join('',@out); } # Fill the repeaty stuff (the sample columns) if ( $$opts{repeat} ) { for my $col (@cols) { my ($alleles,$seps,$is_phased,$is_empty) = $vcf->parse_haplotype($x,$col); my (@out) = copy_array($$opts{repeat}{format}); while (my ($colname,$idx) = each %{$$opts{repeat}{idx}}) { if ( exists($$x{gtypes}{$col}{$colname}) ) { $out[$idx] = $$x{gtypes}{$col}{$colname}; } elsif ( exists($$x{$colname}) ) { $out[$idx] = $$x{$colname}; } } if ( exists($$opts{repeat}{idx}{SAMPLE}) ) { $out[$$opts{repeat}{idx}{SAMPLE}] = $col; } if ( exists($$opts{repeat}{idx}{GTR}) ) { $out[$$opts{repeat}{idx}{GTR}] = $$x{gtypes}{$col}{GT}; } if ( exists($$opts{repeat}{idx}{GT}) ) { my $tmp = $$alleles[0]; for (my $i=0; $i<@$seps; $i++) { $tmp .= $$seps[$i].$$alleles[$i+1]; } $out[$$opts{repeat}{idx}{GT}] = $tmp; } if ( exists($$opts{repeat}{idx}{'*'}) ) { my $sep1 = $$opts{repeat}{join1}; my $sep2 = $$opts{repeat}{join2}; my @tmp; while (my ($key,$value)=each(%{$$x{gtypes}{$col}})) { if ( $key eq 'GT' ) { $value = $$alleles[0]; for (my $i=0; $i<@$seps; $i++) { $value .= $$seps[$i].$$alleles[$i+1]; } } push @tmp, $key.$sep1.$value; } my $idx = $$opts{repeat}{idx}{'*'}; $out[$idx] = join($sep2,@tmp); } for (my $i=0; $i<@out; $i++) { if (!defined($out[$i])) { $out[$i]='.'; } } print join('',@out); } } # Fill everything what comes after the repeat ([]) if ( $$opts{after} ) { my (@out) = copy_array($$opts{after}{format}); while (my ($colname,$idx) = each %{$$opts{after}{idx}}) { if ( $colname eq 'LINE' ) { chomp($line); $out[$idx] = $line; next; } if ( $colname eq 'ALT' ) { $out[$idx] = join(',',@{$$x{ALT}}); next; } if ( $colname eq 'FILTER' ) { $out[$idx] = join(';',@{$$x{FILTER}}); next; } if ( $colname=~m{INFO/(.+)} ) { if ( exists($$x{INFO}{$1}) && !defined($$x{INFO}{$1}) ) { # It is a flag $out[$idx] = 'True'; } else { $out[$idx] = $$x{INFO}{$1}; } next; } if ( exists($$x{$colname}) ) { $out[$idx] = $$x{$colname}; } } for (my $i=0; $i<@out; $i++) { if (!defined($out[$i])) { $out[$i]='.'; } } print join('',@out); } } }