clinvar-database
google-deepmind2k installs
Find clinical evidence for variants in ClinVar.
What it does
Retrieves clinical classifications and supporting evidence for human genomic variants from ClinVar.
When to use it
Use to check variant classifications, review status, laboratory rationales, associated conditions, benchmark controls, or conflicting interpretations.
How to use it
Give it a gene, variant, or genomic region; it retrieves matching variant information and saves the results as JSON files.
What you provide
- a gene, variant, or genomic region
Uses
CL
Latest review
What you need · 6
Requires uv installed and available on PATH; the instructions delegate setup to the uv skill.
The bundled client requires Python 3.10 or newer.
Access · 3
This skill
NCBI E-utilities
Write
Sends configured identifiers to NCBI
ClinVar
Read
Queries clinical variant records