skills/smithery.ai/bio-clinical-databases-clinvar-lookup

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> then help(module.function) to check signatures
  • CLI: <tool> --version then <tool> --help to 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.

Installs
1
First Seen
Apr 7, 2026
bio-clinical-databases-clinvar-lookup from smithery.ai