GA4GH Variation Representation Specification

The Variation Representation Specification (VRS, pronounced “verse”) is a standard developed by the Global Alliance for Genomic Health to facilitate and improve sharing of genetic information. The Specification consists of a JSON Schema for representing many classes of genetic variation, conventions to maximize the utility of the schema, and a Python implementation that promotes adoption of the standard.

Citation

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation.
Wagner AH, Babb L, …, Hart RK
bioRxiv (2021 January 17). doi:10.1101/2021.01.15.426843