Individual skill
clinvar-database
Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.
backend/cli/skills/databases/clinvar-database/SKILL.md
Source commit a08e0ad0ad3d6448123039ee4659163eb2e35d99
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- Last checked
- Nov 2, 2026
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- Repository last updated
- Nov 6, 2026
- License
- Apache-2.0
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# ClinVar Database
## Overview
ClinVar is NCBI's freely accessible archive of reports on relationships between human genetic variants and phenotypes, with supporting evidence. The database aggregates information about genomic variation and its relationship to human health, providing standardized variant classifications used in clinical genetics and research.
## When to Use This Skill
This skill should be used when:
- Searching for variants by gene, condition, or clinical significance
- Interpreting clinical significance classifications (pathogenic, benign, VUS)
- Accessing ClinVar data programmatically via E-utilities API
- Downloading and processing bulk data from FTP