← 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: 5-143214082-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=143214082&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 143214082,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000645722.2",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2185G>T",
          "hgvs_p": "p.Asp729Tyr",
          "transcript": "NM_001135608.3",
          "protein_id": "NP_001129080.1",
          "transcript_support_level": null,
          "aa_start": 729,
          "aa_end": null,
          "aa_length": 759,
          "cds_start": 2185,
          "cds_end": null,
          "cds_length": 2280,
          "cdna_start": 2570,
          "cdna_end": null,
          "cdna_length": 9226,
          "mane_select": "ENST00000645722.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2185G>T",
          "hgvs_p": "p.Asp729Tyr",
          "transcript": "ENST00000645722.2",
          "protein_id": "ENSP00000495131.1",
          "transcript_support_level": null,
          "aa_start": 729,
          "aa_end": null,
          "aa_length": 759,
          "cds_start": 2185,
          "cds_end": null,
          "cds_length": 2280,
          "cdna_start": 2570,
          "cdna_end": null,
          "cdna_length": 9226,
          "mane_select": "NM_001135608.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2350G>T",
          "hgvs_p": "p.Asp784Tyr",
          "transcript": "ENST00000274498.9",
          "protein_id": "ENSP00000274498.4",
          "transcript_support_level": 1,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 2350,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": 2735,
          "cdna_end": null,
          "cdna_length": 9395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.787G>T",
          "hgvs_p": "p.Asp263Tyr",
          "transcript": "ENST00000418236.5",
          "protein_id": "ENSP00000416889.1",
          "transcript_support_level": 1,
          "aa_start": 263,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 787,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 789,
          "cdna_end": null,
          "cdna_length": 1632,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.193G>T",
          "hgvs_p": "p.Asp65Tyr",
          "transcript": "ENST00000425417.2",
          "protein_id": "ENSP00000403388.2",
          "transcript_support_level": 5,
          "aa_start": 65,
          "aa_end": null,
          "aa_length": 96,
          "cds_start": 193,
          "cds_end": null,
          "cds_length": 291,
          "cdna_start": 195,
          "cdna_end": null,
          "cdna_length": 782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2350G>T",
          "hgvs_p": "p.Asp784Tyr",
          "transcript": "NM_015071.6",
          "protein_id": "NP_055886.1",
          "transcript_support_level": null,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 2350,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": 2735,
          "cdna_end": null,
          "cdna_length": 9395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.1966G>T",
          "hgvs_p": "p.Asp656Tyr",
          "transcript": "NM_001349547.2",
          "protein_id": "NP_001336476.1",
          "transcript_support_level": null,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 686,
          "cds_start": 1966,
          "cds_end": null,
          "cds_length": 2061,
          "cdna_start": 2069,
          "cdna_end": null,
          "cdna_length": 8729,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.1966G>T",
          "hgvs_p": "p.Asp656Tyr",
          "transcript": "ENST00000642734.1",
          "protein_id": "ENSP00000495827.1",
          "transcript_support_level": null,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 686,
          "cds_start": 1966,
          "cds_end": null,
          "cds_length": 2061,
          "cdna_start": 2177,
          "cdna_end": null,
          "cdna_length": 3923,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.1069G>T",
          "hgvs_p": "p.Asp357Tyr",
          "transcript": "ENST00000443674.5",
          "protein_id": "ENSP00000393276.1",
          "transcript_support_level": 5,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 387,
          "cds_start": 1069,
          "cds_end": null,
          "cds_length": 1164,
          "cdna_start": 1071,
          "cdna_end": null,
          "cdna_length": 2870,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.361G>T",
          "hgvs_p": "p.Asp121Tyr",
          "transcript": "ENST00000421521.5",
          "protein_id": "ENSP00000389137.1",
          "transcript_support_level": 5,
          "aa_start": 121,
          "aa_end": null,
          "aa_length": 153,
          "cds_start": 361,
          "cds_end": null,
          "cds_length": 462,
          "cdna_start": 362,
          "cdna_end": null,
          "cdna_length": 783,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2350G>T",
          "hgvs_p": "p.Asp784Tyr",
          "transcript": "XM_047416970.1",
          "protein_id": "XP_047272926.1",
          "transcript_support_level": null,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 816,
          "cds_start": 2350,
          "cds_end": null,
          "cds_length": 2451,
          "cdna_start": 2735,
          "cdna_end": null,
          "cdna_length": 3384,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2287G>T",
          "hgvs_p": "p.Asp763Tyr",
          "transcript": "XM_047416974.1",
          "protein_id": "XP_047272930.1",
          "transcript_support_level": null,
          "aa_start": 763,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 2287,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": 2575,
          "cdna_end": null,
          "cdna_length": 3224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2287G>T",
          "hgvs_p": "p.Asp763Tyr",
          "transcript": "XM_047416975.1",
          "protein_id": "XP_047272931.1",
          "transcript_support_level": null,
          "aa_start": 763,
          "aa_end": null,
          "aa_length": 793,
          "cds_start": 2287,
          "cds_end": null,
          "cds_length": 2382,
          "cdna_start": 2572,
          "cdna_end": null,
          "cdna_length": 9232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2242G>T",
          "hgvs_p": "p.Asp748Tyr",
          "transcript": "XM_047416966.1",
          "protein_id": "XP_047272922.1",
          "transcript_support_level": null,
          "aa_start": 748,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 2242,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 2345,
          "cdna_end": null,
          "cdna_length": 2993,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2242G>T",
          "hgvs_p": "p.Asp748Tyr",
          "transcript": "XM_047416967.1",
          "protein_id": "XP_047272923.1",
          "transcript_support_level": null,
          "aa_start": 748,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": 2242,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": 2345,
          "cdna_end": null,
          "cdna_length": 2990,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2239G>T",
          "hgvs_p": "p.Asp747Tyr",
          "transcript": "XM_047416977.1",
          "protein_id": "XP_047272933.1",
          "transcript_support_level": null,
          "aa_start": 747,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": 2239,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": 5377,
          "cdna_end": null,
          "cdna_length": 6025,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2242G>T",
          "hgvs_p": "p.Asp748Tyr",
          "transcript": "XM_005268398.6",
          "protein_id": "XP_005268455.2",
          "transcript_support_level": null,
          "aa_start": 748,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 2242,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 2345,
          "cdna_end": null,
          "cdna_length": 9005,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2176G>T",
          "hgvs_p": "p.Asp726Tyr",
          "transcript": "XM_047416969.1",
          "protein_id": "XP_047272925.1",
          "transcript_support_level": null,
          "aa_start": 726,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": 2176,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": 2279,
          "cdna_end": null,
          "cdna_length": 2928,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2152G>T",
          "hgvs_p": "p.Asp718Tyr",
          "transcript": "XM_047416980.1",
          "protein_id": "XP_047272936.1",
          "transcript_support_level": null,
          "aa_start": 718,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 2152,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2434,
          "cdna_end": null,
          "cdna_length": 9094,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2122G>T",
          "hgvs_p": "p.Asp708Tyr",
          "transcript": "XM_047416982.1",
          "protein_id": "XP_047272938.1",
          "transcript_support_level": null,
          "aa_start": 708,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 2122,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": 2402,
          "cdna_end": null,
          "cdna_length": 9062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2110G>T",
          "hgvs_p": "p.Asp704Tyr",
          "transcript": "XM_047416983.1",
          "protein_id": "XP_047272939.1",
          "transcript_support_level": null,
          "aa_start": 704,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 2110,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": 3316,
          "cdna_end": null,
          "cdna_length": 3964,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2110G>T",
          "hgvs_p": "p.Asp704Tyr",
          "transcript": "XM_047416984.1",
          "protein_id": "XP_047272940.1",
          "transcript_support_level": null,
          "aa_start": 704,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 2110,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": 12059,
          "cdna_end": null,
          "cdna_length": 12707,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2110G>T",
          "hgvs_p": "p.Asp704Tyr",
          "transcript": "XM_047416985.1",
          "protein_id": "XP_047272941.1",
          "transcript_support_level": null,
          "aa_start": 704,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 2110,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": 2887,
          "cdna_end": null,
          "cdna_length": 3535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2110G>T",
          "hgvs_p": "p.Asp704Tyr",
          "transcript": "XM_047416990.1",
          "protein_id": "XP_047272946.1",
          "transcript_support_level": null,
          "aa_start": 704,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 2110,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": 2271,
          "cdna_end": null,
          "cdna_length": 2920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2107G>T",
          "hgvs_p": "p.Asp703Tyr",
          "transcript": "XM_047416971.1",
          "protein_id": "XP_047272927.1",
          "transcript_support_level": null,
          "aa_start": 703,
          "aa_end": null,
          "aa_length": 735,
          "cds_start": 2107,
          "cds_end": null,
          "cds_length": 2208,
          "cdna_start": 2210,
          "cdna_end": null,
          "cdna_length": 2858,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2107G>T",
          "hgvs_p": "p.Asp703Tyr",
          "transcript": "XM_017009248.3",
          "protein_id": "XP_016864737.2",
          "transcript_support_level": null,
          "aa_start": 703,
          "aa_end": null,
          "aa_length": 733,
          "cds_start": 2107,
          "cds_end": null,
          "cds_length": 2202,
          "cdna_start": 2210,
          "cdna_end": null,
          "cdna_length": 8870,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2077G>T",
          "hgvs_p": "p.Asp693Tyr",
          "transcript": "XM_047416972.1",
          "protein_id": "XP_047272928.1",
          "transcript_support_level": null,
          "aa_start": 693,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 2077,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": 2180,
          "cdna_end": null,
          "cdna_length": 2828,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2077G>T",
          "hgvs_p": "p.Asp693Tyr",
          "transcript": "XM_047416973.1",
          "protein_id": "XP_047272929.1",
          "transcript_support_level": null,
          "aa_start": 693,
          "aa_end": null,
          "aa_length": 724,
          "cds_start": 2077,
          "cds_end": null,
          "cds_length": 2175,
          "cdna_start": 2180,
          "cdna_end": null,
          "cdna_length": 2825,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2077G>T",
          "hgvs_p": "p.Asp693Tyr",
          "transcript": "XM_005268399.6",
          "protein_id": "XP_005268456.2",
          "transcript_support_level": null,
          "aa_start": 693,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 2077,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 2180,
          "cdna_end": null,
          "cdna_length": 8840,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2074G>T",
          "hgvs_p": "p.Asp692Tyr",
          "transcript": "XM_005268402.5",
          "protein_id": "XP_005268459.1",
          "transcript_support_level": null,
          "aa_start": 692,
          "aa_end": null,
          "aa_length": 722,
          "cds_start": 2074,
          "cds_end": null,
          "cds_length": 2169,
          "cdna_start": 2459,
          "cdna_end": null,
          "cdna_length": 9119,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.2011G>T",
          "hgvs_p": "p.Asp671Tyr",
          "transcript": "XM_047416976.1",
          "protein_id": "XP_047272932.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 701,
          "cds_start": 2011,
          "cds_end": null,
          "cds_length": 2106,
          "cdna_start": 2114,
          "cdna_end": null,
          "cdna_length": 8774,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.1966G>T",
          "hgvs_p": "p.Asp656Tyr",
          "transcript": "XM_047416978.1",
          "protein_id": "XP_047272934.1",
          "transcript_support_level": null,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": 1966,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": 2069,
          "cdna_end": null,
          "cdna_length": 2716,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.1966G>T",
          "hgvs_p": "p.Asp656Tyr",
          "transcript": "XM_047416979.1",
          "protein_id": "XP_047272935.1",
          "transcript_support_level": null,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1966,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 2069,
          "cdna_end": null,
          "cdna_length": 2714,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.1963G>T",
          "hgvs_p": "p.Asp655Tyr",
          "transcript": "XM_047416987.1",
          "protein_id": "XP_047272943.1",
          "transcript_support_level": null,
          "aa_start": 655,
          "aa_end": null,
          "aa_length": 685,
          "cds_start": 1963,
          "cds_end": null,
          "cds_length": 2058,
          "cdna_start": 5099,
          "cdna_end": null,
          "cdna_length": 11759,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.1900G>T",
          "hgvs_p": "p.Asp634Tyr",
          "transcript": "XM_047416981.1",
          "protein_id": "XP_047272937.1",
          "transcript_support_level": null,
          "aa_start": 634,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": 1900,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": 2003,
          "cdna_end": null,
          "cdna_length": 8663,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "c.1279G>T",
          "hgvs_p": "p.Asp427Tyr",
          "transcript": "XM_047416992.1",
          "protein_id": "XP_047272948.1",
          "transcript_support_level": null,
          "aa_start": 427,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": 1279,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": 7724,
          "cdna_end": null,
          "cdna_length": 8377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "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": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "n.*119G>T",
          "hgvs_p": null,
          "transcript": "ENST00000419676.5",
          "protein_id": "ENSP00000413283.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "n.618G>T",
          "hgvs_p": null,
          "transcript": "ENST00000486650.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4752,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "n.2550G>T",
          "hgvs_p": null,
          "transcript": "NR_146198.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9210,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "n.*119G>T",
          "hgvs_p": null,
          "transcript": "ENST00000419676.5",
          "protein_id": "ENSP00000413283.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "n.*8G>T",
          "hgvs_p": null,
          "transcript": "XR_007058592.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2526,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP26",
          "gene_hgnc_id": 17073,
          "hgvs_c": "n.*8G>T",
          "hgvs_p": null,
          "transcript": "XR_007058593.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2391,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ARHGAP26",
      "gene_hgnc_id": 17073,
      "dbsnp": "rs587778049",
      "frequency_reference_population": 0.0000024778767,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": 0.00000247788,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.2695746421813965,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.166,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.2457,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.3,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.967,
      "phylop100way_prediction": "Uncertain_significance",
      "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": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000645722.2",
          "gene_symbol": "ARHGAP26",
          "hgnc_id": 17073,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "Unknown",
          "hgvs_c": "c.2185G>T",
          "hgvs_p": "p.Asp729Tyr"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}