ClinVar Querier Skill

SkillDatabases & data

ClinVar database query skill for clinical variant interpretation and pathogenicity lookup

Instructions available. Your AI can read the instructions. Execution depends on the setup they require.

Account requirements not reviewed. Check the skill instructions before use; ahel provides instructions and does not run this skill.

Add ahel to your AI once: Claude, ChatGPT, Cursor, Claude Code or Codex. Then ask it to use this.

Then ask your AI: use the ClinVar Querier Skill skill

What this skill tells your AI

The instructions your AI receives, as published by a5c-ai/babysitter in library/specializations/domains/science/bioinformatics/skills/clinvar-querier/SKILL.md and read by ahel’s review.

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)

Signals

GitHub stars: 2k
Forks: 112
Last commit: Sep 2026

Advanced

Item type: skill
Key: clinvar-querier
Source: github.com/a5c-ai/babysitter

github.com/a5c-ai/babysitter