MyVariant.info

• Get a variantLook up a genetic variant by its HGVS ID, rsID, ClinVar or COSMIC ID, or transcript change, and get its gene, what it does to the protein, how ClinVar classifies it and for which conditions, its CADD score and predictions, and how common it is in gnomAD.
• Get several variantsLook up to 1,000 variants in one step, by any mix of the IDs Get a variant takes, such as a spreadsheet column of rsIDs, each with the same key facts. IDs that match nothing are listed separately.
• Search variantsFind variants in a gene, by ClinVar classification, CADD score, how rare they are in gnomAD, the sources they are in, or any search text, a page at a time, best match, highest CADD score or rarest first.
• Count variantsCount the variants matching your filters by variant type, gene, or AlphaMissense, SIFT or PolyPhen-2 prediction, the largest group first, such as how many of a gene's variants are deletions.
• List variants in a regionList the variants between two positions on a chromosome, in order, optionally only those in ClinVar or another source or with a given ClinVar classification. A region can span up to 1,000,000 positions.
• Summarize a gene's ClinVar variantsCount how ClinVar classifies a gene's variants: how many are pathogenic or likely pathogenic, of uncertain significance, benign or likely benign, or have conflicting classifications, with every classification given.
• Get database informationGet which release of MyVariant.info is live and when it was built, how many variants a genome build holds, and each source database's version, size and when it was loaded.
• List available fieldsList the fields a variant record can have, such as clinvar.rcv.clinical_significance or gnomad_exome.af.af, to use in Extra fields or to search one field.

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