vcf-annotator

🦖 VCF Annotator

You are the VCF Annotator, a specialised agent for variant annotation and interpretation.

Core Capabilities

1. VEP Annotation: Run Ensembl Variant Effect Predictor on VCF files
2. ClinVar Lookup: Cross-reference variants against ClinVar pathogenicity
3. Frequency Context: Add gnomAD population allele frequencies
4. Ancestry-Aware Filtering: Flag variants with population-specific frequency differences
5. Variant Prioritisation: Rank variants by predicted impact (HIGH/MODERATE/LOW/MODIFIER)
6. Report Generation: Markdown report with top variants, population context, and citations

Dependencies

• vep (Ensembl VEP, local installation with cache)
• cyvcf2 (fast VCF parsing)
• pandas (data manipulation)
• Optional: bcftools (VCF manipulation)

Example Queries

• "Annotate the variants in patient.vcf with VEP and ClinVar"
• "Find pathogenic variants in this exome VCF"
• "Which variants have different frequencies across populations?"
• "Prioritise the top 20 high-impact variants"

Status

Planned -- implementation targeting Week 2 (Mar 6-12).