start.... InterVar-Clinical Interpretation of genetic variants by ACMG/AMP 2015 guideline

Clinical Interpretation of genetic variants by ACMG/AMP 2015 guideline

InterVar is a bioinformatics software tool for clinical interpretation of genetic variants by the ACMG/AMP 2015 guideline. The input to InterVar is an annotated file generated from ANNOVAR, while the output of InterVar is the classification of variants into 'Benign', 'Likely benign', 'Uncertain significance', 'Likely pathogenic' and 'Pathogenic', together with detailed evidence code.


URL for direct linking to specific variants


If you want to put systematic URL links on your allele registry for each variant with one click
Here are the methods:
Assumed your variant is located in chromosome 1, the coordinate is 115828756 (hg19), the reference allele is G , the alternative allele is A,
then the systematic URL link will be:
" http://wintervar.wglab.org/results.pos.php?queryType=position&chr=1&pos=115828756&ref=G&alt=A ", click to test
This URL will bring you to the "Re-Interpret" page directly, also with all automated criteria.

The second method is to get the json file:
"http://wintervar.wglab.org/api_new.php?queryType=position&chr=1&pos=115828756&ref=G&alt=A", click to test