vcf-toolkit

Analyze VCF/BCF variant files to compute statistics and filter variants.

Updated Aug 23, 2026
One-click install
npx skills add https://github.com/dakesan/cc-dnawork-plugin --skill vcf-toolkit
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: vcf-toolkit
Source: https://github.com/dakesan/cc-dnawork-plugin/tree/main/scientific-skills/vcf-toolkit
Command: npx skills add https://github.com/dakesan/cc-dnawork-plugin --skill vcf-toolkit

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill requires pysam, typer, and includes scripts (resource) components.

What problem does it solve?

This Skill enables you to analyze, filter, and export VCF/BCF variant data, providing comprehensive statistics and region-based filtering for WGS/WES workflows.

Core Features & Use Cases

  • Statistics: Compute variant counts, quality distributions, depth, and allele frequency statistics.
  • Filtering: Filter variants by quality, depth, and allele frequency, including PASS-only options.
  • Export: Output filtered variants or statistics as JSON or new VCFs for downstream analysis.

Quick Start

Generate statistics for 'variants.vcf.gz' and filter for high-quality variants on chr1.

Frequently Asked Questions about vcf-toolkit

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I filter VCF variants by quality, depth, and allele frequency?

Filter VCF variants using quality, depth, and allele frequency thresholds with min-qual, min-dp, min-af, and max-af parameters. The Skill applies these filters to variant records and outputs a new VCF or JSON file containing only variants meeting your criteria.

Can I compute statistics on VCF/BCF files to understand variant distributions?

Yes, generate statistics including variant counts, quality distributions, depth metrics, and allele frequency distributions from VCF or BCF files. Statistics are computed across the entire file or region-specific subsets and exportable as JSON.

How do I extract variants from specific chromosomes or genomic regions in a VCF?

Extract chromosome- or region-specific variants from VCF files by specifying the target region. Filtered results are output as new VCF or JSON, enabling targeted analysis of WGS and WES data.

What's the best way to export VCF data as JSON for downstream analysis?

Export filtered VCF variants or computed statistics directly as JSON using the Skill's export commands. JSON output integrates with downstream analysis pipelines and data processing workflows.

Does this toolkit work with compressed VCF files like .vcf.gz?

Yes, the Skill works with both VCF and BCF formats, including compressed .vcf.gz files. pysam handles decompression automatically during variant parsing and filtering.

Can I filter for PASS-only variants in quality control workflows?

Yes, apply PASS-only filtering to retain only variants meeting standard quality thresholds. This is useful for quality control in WGS and WES analysis before downstream statistical or clinical interpretation.