Clinvar Database
This gives Claude programmatic access to ClinVar's variant pathogenicity database through NCBI's E-utilities API and FTP downloads. You can query by gene, genomic position, or clinical significance, parse XML/VCF/TSV formats, and annotate your variant calls with pathogenicity classifications. The skill includes interpretation guidelines for the star rating system and ACMG classifications, which matters because a single-submitter VUS means something very different from a three-star expert panel pathogenic call. Useful for clinical genomics pipelines where you need to flag patient variants against known disease associations, though you'll still need domain expertise to handle the inevitable conflicting interpretations.
- skills.sh installs
- 254
- GitHub stars
- 33.2K
- last updated
- Aug 21, 2026
Install
$ npx -y skills add davila7/claude-code-templates --skill clinvar-database --agent claude-codeInstalls into .claude/skills of the current project.
Files
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
- Understanding review status and star ratings
- Resolving conflicting variant interpretations
- Annotating variant call sets with clinical significance
Core Capabilities
1. Search and Query ClinVar
Web Interface Queries
Search ClinVar using the web interface at https://www.ncbi.nlm.nih.gov/clinvar/
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- Repository
- github.com/davila7/claude-code-templates
- Categories
- Backend & APIs, Databases
- First seen
- Jun 3, 2026
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