← 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: X-153909746-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153909746&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 153909746,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_001164741.2",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2409C>G",
          "hgvs_p": "p.Pro803Pro",
          "transcript": "NM_001666.5",
          "protein_id": "NP_001657.3",
          "transcript_support_level": null,
          "aa_start": 803,
          "aa_end": null,
          "aa_length": 946,
          "cds_start": 2409,
          "cds_end": null,
          "cds_length": 2841,
          "cdna_start": 2471,
          "cdna_end": null,
          "cdna_length": 3254,
          "mane_select": "ENST00000350060.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001666.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2409C>G",
          "hgvs_p": "p.Pro803Pro",
          "transcript": "ENST00000350060.10",
          "protein_id": "ENSP00000203786.8",
          "transcript_support_level": 1,
          "aa_start": 803,
          "aa_end": null,
          "aa_length": 946,
          "cds_start": 2409,
          "cds_end": null,
          "cds_length": 2841,
          "cdna_start": 2471,
          "cdna_end": null,
          "cdna_length": 3254,
          "mane_select": "NM_001666.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000350060.10"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2529C>G",
          "hgvs_p": "p.Pro843Pro",
          "transcript": "ENST00000370028.7",
          "protein_id": "ENSP00000359045.3",
          "transcript_support_level": 1,
          "aa_start": 843,
          "aa_end": null,
          "aa_length": 986,
          "cds_start": 2529,
          "cds_end": null,
          "cds_length": 2961,
          "cdna_start": 2587,
          "cdna_end": null,
          "cdna_length": 3372,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370028.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2529C>G",
          "hgvs_p": "p.Pro843Pro",
          "transcript": "NM_001164741.2",
          "protein_id": "NP_001158213.1",
          "transcript_support_level": null,
          "aa_start": 843,
          "aa_end": null,
          "aa_length": 986,
          "cds_start": 2529,
          "cds_end": null,
          "cds_length": 2961,
          "cdna_start": 2591,
          "cdna_end": null,
          "cdna_length": 3374,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001164741.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2427C>G",
          "hgvs_p": "p.Pro809Pro",
          "transcript": "ENST00000968871.1",
          "protein_id": "ENSP00000638930.1",
          "transcript_support_level": null,
          "aa_start": 809,
          "aa_end": null,
          "aa_length": 952,
          "cds_start": 2427,
          "cds_end": null,
          "cds_length": 2859,
          "cdna_start": 2491,
          "cdna_end": null,
          "cdna_length": 3275,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968871.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2406C>G",
          "hgvs_p": "p.Pro802Pro",
          "transcript": "ENST00000907990.1",
          "protein_id": "ENSP00000578049.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 945,
          "cds_start": 2406,
          "cds_end": null,
          "cds_length": 2838,
          "cdna_start": 2478,
          "cdna_end": null,
          "cdna_length": 3263,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907990.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2400C>G",
          "hgvs_p": "p.Pro800Pro",
          "transcript": "ENST00000968870.1",
          "protein_id": "ENSP00000638929.1",
          "transcript_support_level": null,
          "aa_start": 800,
          "aa_end": null,
          "aa_length": 943,
          "cds_start": 2400,
          "cds_end": null,
          "cds_length": 2832,
          "cdna_start": 2509,
          "cdna_end": null,
          "cdna_length": 3292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968870.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2346C>G",
          "hgvs_p": "p.Pro782Pro",
          "transcript": "ENST00000370016.5",
          "protein_id": "ENSP00000359033.1",
          "transcript_support_level": 5,
          "aa_start": 782,
          "aa_end": null,
          "aa_length": 925,
          "cds_start": 2346,
          "cds_end": null,
          "cds_length": 2778,
          "cdna_start": 2388,
          "cdna_end": null,
          "cdna_length": 3095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370016.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2307C>G",
          "hgvs_p": "p.Pro769Pro",
          "transcript": "ENST00000907988.1",
          "protein_id": "ENSP00000578047.1",
          "transcript_support_level": null,
          "aa_start": 769,
          "aa_end": null,
          "aa_length": 912,
          "cds_start": 2307,
          "cds_end": null,
          "cds_length": 2739,
          "cdna_start": 2422,
          "cdna_end": null,
          "cdna_length": 3205,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907988.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2304C>G",
          "hgvs_p": "p.Pro768Pro",
          "transcript": "ENST00000907989.1",
          "protein_id": "ENSP00000578048.1",
          "transcript_support_level": null,
          "aa_start": 768,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 2304,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": 2399,
          "cdna_end": null,
          "cdna_length": 3181,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907989.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2223C>G",
          "hgvs_p": "p.Pro741Pro",
          "transcript": "ENST00000927210.1",
          "protein_id": "ENSP00000597269.1",
          "transcript_support_level": null,
          "aa_start": 741,
          "aa_end": null,
          "aa_length": 884,
          "cds_start": 2223,
          "cds_end": null,
          "cds_length": 2655,
          "cdna_start": 2334,
          "cdna_end": null,
          "cdna_length": 3118,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927210.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.2175C>G",
          "hgvs_p": "p.Pro725Pro",
          "transcript": "ENST00000907991.1",
          "protein_id": "ENSP00000578050.1",
          "transcript_support_level": null,
          "aa_start": 725,
          "aa_end": null,
          "aa_length": 868,
          "cds_start": 2175,
          "cds_end": null,
          "cds_length": 2607,
          "cdna_start": 2240,
          "cdna_end": null,
          "cdna_length": 3023,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907991.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.1875C>G",
          "hgvs_p": "p.Pro625Pro",
          "transcript": "ENST00000393721.5",
          "protein_id": "ENSP00000377322.1",
          "transcript_support_level": 5,
          "aa_start": 625,
          "aa_end": null,
          "aa_length": 768,
          "cds_start": 1875,
          "cds_end": null,
          "cds_length": 2307,
          "cdna_start": 1927,
          "cdna_end": null,
          "cdna_length": 2721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393721.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.873C>G",
          "hgvs_p": "p.Pro291Pro",
          "transcript": "ENST00000442172.1",
          "protein_id": "ENSP00000408656.1",
          "transcript_support_level": 3,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 291,
          "cds_start": 873,
          "cds_end": null,
          "cds_length": 878,
          "cdna_start": 875,
          "cdna_end": null,
          "cdna_length": 880,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000442172.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "c.672C>G",
          "hgvs_p": "p.Pro224Pro",
          "transcript": "ENST00000454164.5",
          "protein_id": "ENSP00000412437.1",
          "transcript_support_level": 5,
          "aa_start": 224,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 672,
          "cds_end": null,
          "cds_length": 745,
          "cdna_start": 674,
          "cdna_end": null,
          "cdna_length": 747,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000454164.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.*1783C>G",
          "hgvs_p": null,
          "transcript": "ENST00000404127.6",
          "protein_id": "ENSP00000385042.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000404127.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.*113C>G",
          "hgvs_p": null,
          "transcript": "ENST00000420383.5",
          "protein_id": "ENSP00000397533.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2817,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000420383.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.765C>G",
          "hgvs_p": null,
          "transcript": "ENST00000467421.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 798,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000467421.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.2182C>G",
          "hgvs_p": null,
          "transcript": "ENST00000470209.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2889,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000470209.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.1960C>G",
          "hgvs_p": null,
          "transcript": "ENST00000494302.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2667,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000494302.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.1006C>G",
          "hgvs_p": null,
          "transcript": "ENST00000494397.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1752,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000494397.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.*632C>G",
          "hgvs_p": null,
          "transcript": "ENST00000700282.1",
          "protein_id": "ENSP00000514915.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2067,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000700282.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.*1783C>G",
          "hgvs_p": null,
          "transcript": "ENST00000404127.6",
          "protein_id": "ENSP00000385042.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000404127.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.*113C>G",
          "hgvs_p": null,
          "transcript": "ENST00000420383.5",
          "protein_id": "ENSP00000397533.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2817,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000420383.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.*632C>G",
          "hgvs_p": null,
          "transcript": "ENST00000700282.1",
          "protein_id": "ENSP00000514915.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2067,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000700282.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.-88C>G",
          "hgvs_p": null,
          "transcript": "ENST00000466928.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 840,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000466928.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP4",
          "gene_hgnc_id": 674,
          "hgvs_c": "n.*73C>G",
          "hgvs_p": null,
          "transcript": "ENST00000461739.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 614,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000461739.1"
        }
      ],
      "gene_symbol": "ARHGAP4",
      "gene_hgnc_id": 674,
      "dbsnp": "rs374821227",
      "frequency_reference_population": 0.0000018597541,
      "hom_count_reference_population": 1,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000185975,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.029999999329447746,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.03,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.9,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -3.041,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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_001164741.2",
          "gene_symbol": "ARHGAP4",
          "hgnc_id": 674,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "XL",
          "hgvs_c": "c.2529C>G",
          "hgvs_p": "p.Pro843Pro"
        }
      ],
      "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.