Information for Gensearch Users

A key aim of Cafe Variome is to give clinical scientists the opportunity to share their data with the external community for mutual benefit. By publishing and sharing new variants, data will be brought to the attention of expert groups involved in curating locus-specific databases (LSDBs) for specific genetic diseases. This subsequently adds to the knowledge and understanding of these diseases by furthering scientific progress in the domain, ultimately benefitting all patients with inherited disorders.

The process of submitting to Cafe Variome through the Gensearch software is intended to be as simple as possible, please use the following instructions in order to set up an account with Cafe Variome and subsequently submit from within Gensearch:



Register and activate your account on Cafe Variome using the following URL http://www.cafevariome.org/register



In the Gensearch parameter settings please enter the following information that you provided during the registration process in step 1

  1. Laboratory ID
  2. Username
  3. Password

You may also enter any additional information in this section, it recommended that you provide as much information as possible here. If, however, you do not wish to be contacted further by researchers using your data, we recommend you leave the email field blank.

You should leave the "Cafe Variome URL" field as it is, unless you have been specifically instructed to change this value. If you happen to accidentally delete the value for this field please use: http://www.cafevariome.org/atomserver/v1/cafevariome/variants/$batch



When you are ready to submit variants, click on the "Prepare submission to Cafe Variome" button to finalize your submission data in Gensearch and push the variants to Cafe Variome.