← Back to variant description

GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 4-84717462-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=84717462&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 84717462,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_014991.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7755-446C>G",
          "hgvs_p": null,
          "transcript": "NM_014991.6",
          "protein_id": "NP_055806.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3526,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000295888.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014991.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7755-446C>G",
          "hgvs_p": null,
          "transcript": "ENST00000295888.9",
          "protein_id": "ENSP00000295888.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3526,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014991.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000295888.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": 37,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.6195-446C>G",
          "hgvs_p": null,
          "transcript": "ENST00000514711.2",
          "protein_id": "ENSP00000424987.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3006,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 9021,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000514711.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": 50,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_005262858.6",
          "protein_id": "XP_005262915.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005262858.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 69,
          "intron_rank": 49,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_011531757.4",
          "protein_id": "XP_011530059.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011531757.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_011531759.3",
          "protein_id": "XP_011530061.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011531759.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_011531760.4",
          "protein_id": "XP_011530062.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011531760.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": 51,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_017007906.3",
          "protein_id": "XP_016863395.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017007906.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": 51,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_017007907.3",
          "protein_id": "XP_016863396.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017007907.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": 50,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_017007908.3",
          "protein_id": "XP_016863397.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017007908.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": 51,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449846.1",
          "protein_id": "XP_047305802.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449846.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": 51,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449847.1",
          "protein_id": "XP_047305803.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449847.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": 51,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449848.1",
          "protein_id": "XP_047305804.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449848.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": 51,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449849.1",
          "protein_id": "XP_047305805.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449849.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": 50,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449850.1",
          "protein_id": "XP_047305806.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449850.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": 47,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7809-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449860.1",
          "protein_id": "XP_047305816.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3544,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449860.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 69,
          "intron_rank": 49,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7764-446C>G",
          "hgvs_p": null,
          "transcript": "XM_011531761.4",
          "protein_id": "XP_011530063.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3529,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011531761.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7758-446C>G",
          "hgvs_p": null,
          "transcript": "XM_011531762.4",
          "protein_id": "XP_011530064.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3527,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011531762.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": 47,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7755-446C>G",
          "hgvs_p": null,
          "transcript": "XM_011531763.4",
          "protein_id": "XP_011530065.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3526,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011531763.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 69,
          "intron_rank": 49,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7755-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449851.1",
          "protein_id": "XP_047305807.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3526,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449851.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7755-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449852.1",
          "protein_id": "XP_047305808.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3526,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449852.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7725-446C>G",
          "hgvs_p": null,
          "transcript": "XM_011531764.4",
          "protein_id": "XP_011530066.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3516,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10551,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011531764.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7713-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449853.1",
          "protein_id": "XP_047305809.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3512,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10539,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449853.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": 47,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7704-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449854.1",
          "protein_id": "XP_047305810.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3509,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449854.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": 48,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7680-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449855.1",
          "protein_id": "XP_047305811.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3501,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449855.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": 47,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7674-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449856.1",
          "protein_id": "XP_047305812.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3499,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10500,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449856.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": 47,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7671-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449857.1",
          "protein_id": "XP_047305813.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3498,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449857.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 66,
          "intron_rank": 46,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7671-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449858.1",
          "protein_id": "XP_047305814.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3498,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449858.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 66,
          "intron_rank": 46,
          "intron_rank_end": null,
          "gene_symbol": "WDFY3",
          "gene_hgnc_id": 20751,
          "hgvs_c": "c.7620-446C>G",
          "hgvs_p": null,
          "transcript": "XM_047449859.1",
          "protein_id": "XP_047305815.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 3481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 10446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047449859.1"
        }
      ],
      "gene_symbol": "WDFY3",
      "gene_hgnc_id": 20751,
      "dbsnp": "rs17009220",
      "frequency_reference_population": 0.045040786,
      "hom_count_reference_population": 284,
      "allele_count_reference_population": 6858,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0450408,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 6858,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 284,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8999999761581421,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.9,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.185,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_014991.6",
          "gene_symbol": "WDFY3",
          "hgnc_id": 20751,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.7755-446C>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.