MobiDetails is an annotation platform for DNA variants. Users submit the variants they wish to annotate, the variant being linked to a gene.
To annotate a variant, either:

• go to your gene page e.g. using the search engine at the bottom of each page (HGNC names),
• then use the variant annotation form by clicking on the 'Run a new variant!' button (substitutions or small indels HGVS c. nomenclature)
• if the annotation retrieval from VariantValidator is successfull, a new link appears in the middle of the page,
• which will bring you to the annotation page. You're done!

For genes including multiple isoforms, you can select your isoform of interest. But beware, MobiDetails will in addition try to annotate on the canonical isoform (most likely the MANE isoform).

Once annotated, a variant will be stored in the system and you won't have to annotate it again.

You can also create an account (top right of all pages, icon ), which will allow you to quickly retrieve all the variants you annotated and all your favourite variants.
You can mark a variant as favourite in the variant page when you're logged in () by cliking on the star at the bottom of the left menu. You can also use the heart icon to add a variant to your ClinVar watch list (see ClinVar watch functionality / favourite variants section below). You can retrieve your variants using the 'identity card' on the top right menu when you're logged in. This profile page is useful to manage your options.
Registered users can in addition add an ACMG class to the variants and also contact each others via the application.

Search engine:
The search engine has two main functions:

• Retrieve pre-existing annotations - already added by users.
  • by exact HGVS c. or p. (allowing variations), e.g. 'p.Arg34Ter', 'p.Arg34*', 'c.100C>T', 'c.100c>t'...
  • by exact HGVS genomic nomenclature (hg19 or hg38), e.g. 'chr1:g.216595579G>A' or 'NC_000001.10:g.216595579G>A'
  • a partial number match on HGVS c. or p. variant names, e.g. '229' would return all variants with 229 in c. name or p. name
  • you can also use a decorator '%' with numbers to look for exact matches, e.g. '%2299' would return variants that contain 2299 in c. name or p. name, but not 22991, for example
  • gene symbol, e.g. 'USH2A', including HGNC previous symbols and HGNC aliases
  • dbSNP rs identifier, e.g. 'rs863225293'
  • 1-216422237-G-A, pseudo VCF expression (default hg38), or hg19-1-216595579-G-A, hg38:1:216422237:G:A, separator being ':', '_' or '-'. Genome version supports GRCh37, GRCh38, hg19, hg38, case insensitive.
  • the keyword 'last' will return all variants annotated during the last 7 days
• Annotate new variants using the following formats:
  • NC_000001.11:g.216422237G>A;USH2A - e.g. strict HGVS genomic (hg38/hg19) + ';' + HGNC gene symbol
  • NM_206933.2:c.100C>T or NM_206933.2(USH2A):c.100C>T
  • rs772808534 (can take up to 10-15s)
  • 1-216422237-G-A, pseudo VCF expression (default hg38), or hg19-1-216595579-G-A, hg38:1:216422237:G:A, separator being ':', '_' or '-'. Genome version supports GRCh37, GRCh38, hg19, hg38, case insensitive.

We thank all the academic teams who provide freely available tools for the community.
You will find below a list of references and versions of all tools included in MobiDetails:

Authenticated users have the ability to mark any variant of interest. There are 2 types of marks in Mobidetails:

• Favourite variants: identified by a star icon . this list is useful to:
  • quickly retrieve a variant from your profile page
  • to create unique urls pointing to several variants which can be used in publications (e.g. this list of KMT2A variants with episignature profile data)
• ClinVar watch variants: identified by a heart icon . This list of variants will be checked against each new release of ClinVar, and significant changes will be reported by email to you. Significant changes means:
  • ACMG class 1 or 2 to any other class
  • class 3 to any other class
  • class 4 or 5 to any other class
  • Conflicting to any other or any to conflicting
  • variant occuring in ClinVar
  In addition you can choose to select the 'Automatic ClinVar watch of the variants you generate' feature. Enabling this feature will ensure that each time that you generate an annotation while being authenticated, this variant is automatically added to your watch list.
  To empty your watch list, just disable the Clinvar watch feature in your profile page. In addition, enabling the 'Automatic ClinVar watch of the variants you generate' feature will also fill in your watch list with all the variants you already annotated.

This website and the associated API is maintained by the Laboratory of Molecular genetics, Montpellier University Hospital, France. The software is provided 'as is', without warranty of any kind, express or implied, including but not limited to the warranties of merchantability, fitness for a particular purpose and noninfringement. In no event shall the authors or copyright holders be liable for any claim, damages or other liability, whether in an action of contract, tort or otherwise, arising from, out of or in connection with the software of the use or other dealings in the software. It is distributed as a free software under the GNU General Public License.

• To mention MobiDetails, please cite:
  Baux, D., Van Goethem, C., Ardouin, O. et al. MobiDetails: online DNA variants interpretation. Eur J Hum Genet (2020). DOI - PubMed
• To specifically cite SpliceAI-visual, please include the above citation and:
  De Sainte Agathe, J-M., Filser, M. et al. SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Hum genomics (2023). DOI - PubMed

Deafness and blindness group at Laboratory of molecular genetics, Montpellier University Hospital

MoBiDiC, bioinformaticians at Montpellier University Hospital

Available at https://github.com/vidboda/MobiDetails

This service is based on VariantValidator (paper) to create the variants.
Logos made using Logomakr. Cookie Consents popup made with CookieConsent API.
MobiDetails uses several APIs to maintain its data integrity, including:

• NCBI eutils
• UNIPROT
• VariantValidator

• LitVar
• LOVD
• wInterVar
• MetaDome
• PanelApp

MobiDetails and LOVD are working together to ensure a persistent sharing of the variants and annotations.
When a MobiDetails user defines an ACMG class, this action triggers the submission of the variant to the Global Variome LOVD shared database. As in MobiDetails the variants are not related to any patient or sample, this will also be the case with the LOVD submissions. Only the HGVS nomenclatures, definition of the variant and the ACMG class will be sent. The MobiDetails user will not be listed as "Submitter" in the LOVD instance (The submitter will be identified as "MobiDetails"). This behaviour can be modified in the profile page of the MobiDetails user.
This integration of the 2 system will ensure a larger diffusion of the useful data present in MobiDetails.

MobiDetails is free for use, but non-academic users must register and be identified as such.
Their access to data will be slightly modified in order to comply with different tools terms of distribution. However, if you plan to make an extensive use of MobiDetails, contact us in order to set up a proper plan for you.

MobiDetails does not require an account, you can annotate and analyse variants as a public user (except for non-academic users, see above).
Authentication allows a greater experience and involves cookies, however, they are strictly functional cookies.
By registering, you agree that MobiDetails will store some kind of personal data. These data will not be used for any commercial purpose neither be transmitted to any organism. Their usage is strictly restricted to MobiDetails internal operation.