myvariant.variants.info

io.github.whiteknightonhorse/apibase · Verify this server

Retrieve comprehensive annotation for a single genetic variant by its dbSNP rsID (e.g. "rs671") or HGVS genomic notation. Returns complete annotation from 30+ integrated databases: ClinVar clinical significance and disease conditions, CADD pathogenicity scores (raw + PHRED), gnomAD exome and genome allele frequencies across ancestry groups (AFR, EUR, EAS, AMR, ASJ), SnpEff predicted functional consequences with HGVS coding and protein notations, dbSNP allele frequency data, COSMIC somatic mutation records, CIViC clinical interpretations, and genomic coordinates in both GRCh37 (hg19) and GRCh38 (hg38). Essential for variant interpretation pipelines, pharmacogenomics analysis, and clinical variant classification (ACMG guidelines).