Introducing

VarSy - The Variant Synonymizer

What is VarSy?

VarSy provides variant synonyms across genomic, transcript, and amino-acid sequences. It minimizes burder on users through a single search box for exact or approximate queries, removing need for multiple clicks and search interfaces. VarSy available through attractive user interface and simple APIs.

Why Use VarSy?

  • Unify variant names from different databases and publications.
  • Quickly retrieve all synonyms for a given change.
  • Streamline both clinical and research variant lookups.

Query And Results

Upon successful login, query in the search bar (see the snapshot below) to retrieve exact or possible matches.

VarSy Search UI
Search box - to query VarSy

Below is an example of an exact HGVS search—here we queried “NM_006772.3:c.2956G>T” and retrieved all matching variant synonyms with their genomic, transcript, and protein mappings.

VarSy Search UI
Results - Exact search using HGVS expression

Here’s an example of an approximate query—entering “GRIN2A:Asp192Asn” returns all related variants across transcripts and nomenclatures for the GRIN2A gene.

VarSy Search UI
Results - Approximate search provides possible mappings

This graphical overview, included with each mapping, lets you easily spot variants that may warrant further investigation. It displays variant positions across transcript isoforms, shows exon sizes, and indicates the number of exons before and after each variant’s exon, as well as the number of bases upstream and downstream of the variant within that exon.

VarSy Search UI
Graphical overview - Easily find relative position of variant across various transcripts.

Examples

Search Term Description
NM_000487.6:c.343G>T Transcript-level coding change on NM_000487.6
NP_000478.3:p.Ala115Ser Protein-level substitution on NP_000478.3
NC_000022.11:g.50627288C>A Genomic change on GRCh38 chr22
ARSA:c.343G>T Gene-level coding prefix for ARSA
GRIN2A:p.Asp192Asn Protein-level substitutions for GRIN2A

Summary

In summary, VarSy streamlines variant discovery by unifying disparate nomenclatures into a single, user-friendly interface. Whether you’re a clinician validating a patient’s mutation or a researcher exploring gene‐level variation, VarSy’s powerful search capabilities and clear visualizations let you access all relevant synonym mappings in seconds. Explore the UI, tap into our RESTful APIs for programmatic integration, and see how VarSy can simplify your genetic variant workflows starting today.