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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: 4-113369688-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113369688&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 113369688,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001386174.1",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11493G>A",
          "hgvs_p": "p.Glu3831Glu",
          "transcript": "NM_001148.6",
          "protein_id": "NP_001139.3",
          "transcript_support_level": null,
          "aa_start": 3831,
          "aa_end": null,
          "aa_length": 3957,
          "cds_start": 11493,
          "cds_end": null,
          "cds_length": 11874,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000357077.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001148.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11493G>A",
          "hgvs_p": "p.Glu3831Glu",
          "transcript": "ENST00000357077.9",
          "protein_id": "ENSP00000349588.4",
          "transcript_support_level": 1,
          "aa_start": 3831,
          "aa_end": null,
          "aa_length": 3957,
          "cds_start": 11493,
          "cds_end": null,
          "cds_length": 11874,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001148.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357077.9"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11634G>A",
          "hgvs_p": "p.Glu3878Glu",
          "transcript": "ENST00000506344.6",
          "protein_id": "ENSP00000422888.2",
          "transcript_support_level": 1,
          "aa_start": 3878,
          "aa_end": null,
          "aa_length": 4183,
          "cds_start": 11634,
          "cds_end": null,
          "cds_length": 12552,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000506344.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.5238G>A",
          "hgvs_p": "p.Glu1746Glu",
          "transcript": "ENST00000394537.7",
          "protein_id": "ENSP00000378044.3",
          "transcript_support_level": 1,
          "aa_start": 1746,
          "aa_end": null,
          "aa_length": 1872,
          "cds_start": 5238,
          "cds_end": null,
          "cds_length": 5619,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394537.7"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.5211G>A",
          "hgvs_p": "p.Glu1737Glu",
          "transcript": "ENST00000506722.5",
          "protein_id": "ENSP00000421067.1",
          "transcript_support_level": 1,
          "aa_start": 1737,
          "aa_end": null,
          "aa_length": 1863,
          "cds_start": 5211,
          "cds_end": null,
          "cds_length": 5592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000506722.5"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.2241G>A",
          "hgvs_p": "p.Glu747Glu",
          "transcript": "ENST00000514960.5",
          "protein_id": "ENSP00000422853.1",
          "transcript_support_level": 1,
          "aa_start": 747,
          "aa_end": null,
          "aa_length": 965,
          "cds_start": 2241,
          "cds_end": null,
          "cds_length": 2898,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000514960.5"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.1920G>A",
          "hgvs_p": "p.Glu640Glu",
          "transcript": "ENST00000510275.8",
          "protein_id": "ENSP00000421023.4",
          "transcript_support_level": 1,
          "aa_start": 640,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1920,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000510275.8"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11634G>A",
          "hgvs_p": "p.Glu3878Glu",
          "transcript": "NM_001386174.1",
          "protein_id": "NP_001373103.1",
          "transcript_support_level": null,
          "aa_start": 3878,
          "aa_end": null,
          "aa_length": 4183,
          "cds_start": 11634,
          "cds_end": null,
          "cds_length": 12552,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386174.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11610G>A",
          "hgvs_p": "p.Glu3870Glu",
          "transcript": "NM_001386175.1",
          "protein_id": "NP_001373104.1",
          "transcript_support_level": null,
          "aa_start": 3870,
          "aa_end": null,
          "aa_length": 4175,
          "cds_start": 11610,
          "cds_end": null,
          "cds_length": 12528,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386175.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11331G>A",
          "hgvs_p": "p.Glu3777Glu",
          "transcript": "ENST00000672209.1",
          "protein_id": "ENSP00000499982.1",
          "transcript_support_level": null,
          "aa_start": 3777,
          "aa_end": null,
          "aa_length": 3995,
          "cds_start": 11331,
          "cds_end": null,
          "cds_length": 11988,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672209.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11574G>A",
          "hgvs_p": "p.Glu3858Glu",
          "transcript": "ENST00000672240.1",
          "protein_id": "ENSP00000500548.1",
          "transcript_support_level": null,
          "aa_start": 3858,
          "aa_end": null,
          "aa_length": 3984,
          "cds_start": 11574,
          "cds_end": null,
          "cds_length": 11955,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672240.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11538G>A",
          "hgvs_p": "p.Glu3846Glu",
          "transcript": "ENST00000671971.1",
          "protein_id": "ENSP00000499832.1",
          "transcript_support_level": null,
          "aa_start": 3846,
          "aa_end": null,
          "aa_length": 3972,
          "cds_start": 11538,
          "cds_end": null,
          "cds_length": 11919,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000671971.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11331G>A",
          "hgvs_p": "p.Glu3777Glu",
          "transcript": "ENST00000673298.1",
          "protein_id": "ENSP00000500245.1",
          "transcript_support_level": null,
          "aa_start": 3777,
          "aa_end": null,
          "aa_length": 3964,
          "cds_start": 11331,
          "cds_end": null,
          "cds_length": 11895,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000673298.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11331G>A",
          "hgvs_p": "p.Glu3777Glu",
          "transcript": "ENST00000503423.6",
          "protein_id": "ENSP00000421011.2",
          "transcript_support_level": 5,
          "aa_start": 3777,
          "aa_end": null,
          "aa_length": 3961,
          "cds_start": 11331,
          "cds_end": null,
          "cds_length": 11886,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000503423.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11259G>A",
          "hgvs_p": "p.Glu3753Glu",
          "transcript": "NM_001386142.1",
          "protein_id": "NP_001373071.1",
          "transcript_support_level": null,
          "aa_start": 3753,
          "aa_end": null,
          "aa_length": 3940,
          "cds_start": 11259,
          "cds_end": null,
          "cds_length": 11823,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001386142.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11439G>A",
          "hgvs_p": "p.Glu3813Glu",
          "transcript": "ENST00000673363.1",
          "protein_id": "ENSP00000500539.1",
          "transcript_support_level": null,
          "aa_start": 3813,
          "aa_end": null,
          "aa_length": 3939,
          "cds_start": 11439,
          "cds_end": null,
          "cds_length": 11820,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000673363.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11430G>A",
          "hgvs_p": "p.Glu3810Glu",
          "transcript": "ENST00000672830.1",
          "protein_id": "ENSP00000500222.1",
          "transcript_support_level": null,
          "aa_start": 3810,
          "aa_end": null,
          "aa_length": 3936,
          "cds_start": 11430,
          "cds_end": null,
          "cds_length": 11811,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672830.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11331G>A",
          "hgvs_p": "p.Glu3777Glu",
          "transcript": "ENST00000672068.1",
          "protein_id": "ENSP00000499902.1",
          "transcript_support_level": null,
          "aa_start": 3777,
          "aa_end": null,
          "aa_length": 3934,
          "cds_start": 11331,
          "cds_end": null,
          "cds_length": 11805,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672068.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11394G>A",
          "hgvs_p": "p.Glu3798Glu",
          "transcript": "ENST00000264366.10",
          "protein_id": "ENSP00000264366.6",
          "transcript_support_level": 5,
          "aa_start": 3798,
          "aa_end": null,
          "aa_length": 3924,
          "cds_start": 11394,
          "cds_end": null,
          "cds_length": 11775,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000264366.10"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANK2",
          "gene_hgnc_id": 493,
          "hgvs_c": "c.11394G>A",
          "hgvs_p": "p.Glu3798Glu",
          "transcript": "ENST00000672502.1",
          "protein_id": "ENSP00000499870.1",
          "transcript_support_level": null,
          "aa_start": 3798,
          "aa_end": null,
          "aa_length": 3924,
          "cds_start": 11394,
          "cds_end": null,
          "cds_length": 11775,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
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        {
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "upstream_gene_variant"
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          "exon_count": 2,
          "intron_rank": null,
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          "gene_symbol": "ANK2",
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          "hgvs_c": "n.-14G>A",
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          "transcript": "ENST00000684230.1",
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          "biotype": "retained_intron",
          "feature": "ENST00000684230.1"
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      ],
      "gene_symbol": "ANK2",
      "gene_hgnc_id": 493,
      "dbsnp": "rs144046572",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.028999999165534973,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.029,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.76,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.106,
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001386174.1",
          "gene_symbol": "ANK2",
          "hgnc_id": 493,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.11634G>A",
          "hgvs_p": "p.Glu3878Glu"
        }
      ],
      "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.