Categorical Variation Representation Specification

The Categorical Variation Representation Specification (Cat-VRS, pronounced “cat verse”) is a specification developed by the Global Alliance for Genomics and Health (GA4GH) to provide a standard for the representation of categorical variant concepts in genomics knowledgebases, and improve genomic knowledge search, curation, and harmonization. The specification consists of a JSON Schema for representing classes of categorical variation, conventions to maximize the utility of the schema, and a python implementation that promotes adoption of the standard.