Variant search¶

MaveMD provides a dedicated variant search that lets you look up individual genetic variants and find any MAVE functional data available for them in MaveDB. This is separate from the MaveDB dataset search, which finds experiments and score sets by gene, target, or publication.

Supported identifiers¶

You can search for variants using any of the following identifier types:

Identifier	Example	Source
HGVS string	`NM_007294.4:c.5123C>A`	Standard variant nomenclature
ClinVar Variation ID	`55367`	ClinVar
dbSNP RSID	`rs80357906`	dbSNP
ClinGen Allele ID (CAID)	`CA024716`	ClinGen Allele Registry

How search works¶

MaveMD variant search is powered by the ClinGen Allele Registry. When MaveDB maps variants to human genomic coordinates, it registers them with the ClinGen Allele Registry and obtains ClinGen Allele IDs (CAIDs). These stable, universal identifiers allow MaveMD to match your search query — regardless of which identifier type you use — to the correct variant across all datasets.

This means you can search using a ClinVar Variation ID from a clinical report and find the same variant in MAVE datasets that originally used HGVS notation on a different transcript, as long as both resolve to the same genomic variant.

Fuzzy search¶

In addition to searching by identifier, MaveMD provides a structured fuzzy search interface for cases where you don't have a complete identifier. The fuzzy search accepts:

Gene symbol -- The HGNC gene symbol (e.g., BRCA1)
Variant type -- Protein or cDNA
Position -- The amino acid or nucleotide position
Reference allele -- The reference residue or base
Alternate allele -- The variant residue or base

The fuzzy search validates your input and queries the ClinGen Allele Registry to resolve the variant.

Search results¶

When a variant is found in one or more MaveMD datasets, the results page displays:

Available measurements -- A list of MAVE datasets (assays) that include functional data for the variant. When the variant has been measured in multiple assays, each is listed separately.
Variant representation -- The variant shown in HGVS format along with alternate identifiers (ClinGen Allele ID, ClinVar Variation ID, dbSNP RSID) where available.

Select a measurement to view the full variant page with detailed functional evidence, assay facts, and calibration information.

Linking from external resources¶

MaveMD variants are accessible from external platforms through the ClinGen Linked Data Hub. When viewing a variant in the ClinGen Allele Registry, you can navigate directly to the corresponding MaveMD variant page if functional data is available.