bio-clinical-databases-clinvar-lookup
Installation
SKILL.md
Version Compatibility
Reference examples tested with: Entrez Direct 21.0+, bcftools 1.19+
Before using code patterns, verify installed versions match. If versions differ:
- Python:
pip show <package>thenhelp(module.function)to check signatures - CLI:
<tool> --versionthen<tool> --helpto confirm flags
If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying.
ClinVar Lookup
REST API Queries
Goal: Retrieve ClinVar pathogenicity classifications and disease associations for variants via REST API.
Approach: Query NCBI E-utilities endpoints with variant IDs, gene symbols, or HGVS notation and parse JSON responses.