clinvar-database

SKILL.md

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.

Search ClinVar using the web interface at https://www.ncbi.nlm.nih.gov/clinvar/

Access ClinVar programmatically using NCBI's E-utilities API. Refer to references/apireference.md for comprehensive API documentation including:

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine. Source: jackspace/claudeskillz.

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