myvariant.variants.search

io.github.whiteknightonhorse/apibase · Verify this server

Search the MyVariant.info database of 450M+ annotated human genetic variants using a flexible query syntax. Query by: dbSNP rsID (e.g. "rs58991260"), gene symbol (e.g. "dbsnp.gene.symbol:BRCA1"), ClinVar clinical significance (e.g. "clinvar.rcv.clinical_significance:Pathogenic"), CADD pathogenicity score (e.g. "cadd.phred:>30"), chromosomal position range (e.g. "chrom:17 AND hg19.start:[41196312 TO 41277500]"), or disease/phenotype keywords (e.g. "clinvar.rcv.conditions.name:breast cancer"). Each hit includes chromosome, genomic position (hg19/hg38), rsID, reference/alternate alleles, CADD PHRED score, ClinVar clinical significance, gnomAD allele frequency, and predicted functional consequences (SnpEff). Data integrates ClinVar, gnomAD, CADD, dbSNP, COSMIC, CIViC, ExAC, and 30+ annotation sources.