Extracting information from VCFs

The versatile bcftools query command can be used to extract any VCF field. Combined with standard UNIX commands, this gives a powerful tool for quick querying of VCFs.

Below is a list of some of the most common tasks with explanation how it works. For a full list of options, see the manual page.

List of samples
bcftools query -l file.bcf
Number of samples
bcftools query -l file.bcf | wc -l
List of positions
bcftools query -f '%POS\n' file.bcf

In this example, the -f otion defines the output format. The %POS string indicates that for each VCF line we want the POS column printed. The \n stands for a newline character, a notation commonly used in the world of computer programming. Any characters without a special meaning will be passed as is, so for example see this command and its output below:

$ bcftools query -f 'pos=%POS\n' file.bcf | head -3
pos=13380
pos=16071
pos=16141

Here the $ character precedes the command we typed on the command line and below is the actual output that was printed. The | head -3 part limited the output to the first three lines.

List of positions and alleles
$ bcftools query -f '%CHROM %POS %REF %ALT\n' file.bcf | head -3
1 13380 C G
1 16071 G A
1 16141 C T
Extract allele frequency at each position

Assuming the INFO/AF tag is present, we can refer to it using %INFO/AF or, if unambiguous, using %AF:

$ bcftools query -f '%CHROM %POS %AF\n' file.bcf | head -3
1 13380 7.69515e-05
1 16071 0.000123122
1 16141 0.000138513

If AF annotation is not present but AN and AC are, we can compute the frequencies on the fly:

$ bcftools query -f '%CHROM %POS %AN %AC{0}\n' file.bcf | awk '{printf "%s %s %f\n",$1,$2,$4/$3}' | head -3
1 13380 0.000077
1 16071 0.000123
1 16141 0.000139

Because the AC tag can have multiple comma-separated values, we select the first one using the subscript {0}. The awk outputs the first two fields unchanged and computes the fraction using the third and fourth.

Extracting per-sample tags

FORMAT tags can be extracted using the square brackets [] operator, which loops over all samples. For example, to print the GT field followed by PL field we can write:

$ bcftools query -f '%CHROM %POS[\t%GT\t%PL]\n' file.bcf | head -3
1 10234 1/1 28,3,0  1/1 29,3,0
1 10291 ./. 0,0,0   1/1 28,3,0
1 14907 0/1 8,0,17  0/1 26,0,48

Here we used the tab character \t instead of space for a change. If we wanted to print GTs for all samples first followed by PLs for all samples rather than mixing the two types as above, we could write two bracket operators instead:

$ bcftools query -f '%CHROM %POS  GTs:[ %GT]\t PLs:[ %PL]\n' file.bcf | head -3
1 10234  GTs: 1/1 1/1    PLs: 28,3,0 29,3,0
1 10291  GTs: ./. 1/1    PLs: 0,0,0 28,3,0
1 14907  GTs: 0/1 0/1    PLs: 8,0,17 26,0,48
Extracting structured VEP annotations

Please see the plugin split-vep.

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