clinvar-querier
// ClinVar database query skill for clinical variant interpretation and pathogenicity lookup
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stars:384
forks:73
updated:March 4, 2026
SKILL.mdreadonly
SKILL.md Frontmatter
nameclinvar-querier
descriptionClinVar database query skill for clinical variant interpretation and pathogenicity lookup
allowed-toolsRead,Write,Glob,Grep,Edit,WebFetch,WebSearch,Bash
metadata[object Object]
ClinVar Querier Skill
Purpose
Enable ClinVar database queries for clinical variant interpretation and pathogenicity lookup.
Capabilities
- Variant significance lookup
- Submission history retrieval
- Condition association queries
- Evidence level assessment
- Batch variant queries
- VCF annotation integration
Usage Guidelines
- Query variants with standard nomenclature
- Review submission history for context
- Consider evidence levels in interpretation
- Batch query for efficiency
- Integrate with VCF annotation
- Document ClinVar version dates
Dependencies
- ClinVar API
- VarSome API
- OMIM
Process Integration
- Clinical Variant Interpretation (clinical-variant-interpretation)
- Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)
- Tumor Molecular Profiling (tumor-molecular-profiling)