clinvar-databaselisted
Install: claude install-skill jaechang-hits/SciAgent-Skills
# ClinVar Clinical Variants Database
## Overview
ClinVar is NCBI's public archive of interpretations of variants submitted by clinical laboratories, researchers, and expert panels. It contains 2M+ variants with clinical significance classifications (Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign) for over 6,000 conditions. Access is free and requires no authentication via NCBI E-utilities.
## When to Use
- Checking whether a specific variant (rsID, HGVS, or genomic position) has a clinical significance classification
- Retrieving all pathogenic/likely-pathogenic variants in a gene of interest
- Identifying conflicting interpretations between submitting laboratories
- Pulling condition/phenotype associations for a variant (MIM, MeSH, HPO terms)
- Building variant filtering pipelines that prioritize clinically actionable variants
- For somatic cancer variants, also check `cosmic-database`; for GWAS associations use `gwas-database`
## Prerequisites
- **Python packages**: `requests`, `xml.etree.ElementTree` (stdlib)
- **Data requirements**: gene symbols, rsIDs, HGVS strings, or ClinVar Variation IDs
- **Environment**: internet connection; NCBI Entrez email required (set `email` parameter)
- **Rate limits**: 3 requests/second unauthenticated; 10/second with API key (free at https://www.ncbi.nlm.nih.gov/account/)
```bash
pip install requests
# No additional packages required; xml.etree is part of Python stdlib
```
## Quick Start
```python
import requests
EMAIL