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claude-codescience

Babysitter clinvar-querier

ClinVar database query skill for clinical variant interpretation and pathogenicity lookup

install
source · Clone the upstream repo
git clone https://github.com/a5c-ai/babysitter
Claude Code · Install into ~/.claude/skills/
T=$(mktemp -d) && git clone --depth=1 https://github.com/a5c-ai/babysitter "$T" && mkdir -p ~/.claude/skills && cp -r "$T/library/specializations/domains/science/bioinformatics/skills/clinvar-querier" ~/.claude/skills/a5c-ai-babysitter-clinvar-querier && rm -rf "$T"
manifest: library/specializations/domains/science/bioinformatics/skills/clinvar-querier/SKILL.md
tags
#clinical-genomics#clinvar#pathogenicity#database#variant-lookup
source content

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)