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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: 20-35003168-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35003168&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 35003168,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_015638.3",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2372A>G",
          "hgvs_p": "p.Asp791Gly",
          "transcript": "NM_015638.3",
          "protein_id": "NP_056453.1",
          "transcript_support_level": null,
          "aa_start": 791,
          "aa_end": null,
          "aa_length": 797,
          "cds_start": 2372,
          "cds_end": null,
          "cds_length": 2394,
          "cdna_start": 2398,
          "cdna_end": null,
          "cdna_length": 3162,
          "mane_select": "ENST00000252015.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015638.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2372A>G",
          "hgvs_p": "p.Asp791Gly",
          "transcript": "ENST00000252015.3",
          "protein_id": "ENSP00000252015.2",
          "transcript_support_level": 1,
          "aa_start": 791,
          "aa_end": null,
          "aa_length": 797,
          "cds_start": 2372,
          "cds_end": null,
          "cds_length": 2394,
          "cdna_start": 2398,
          "cdna_end": null,
          "cdna_length": 3162,
          "mane_select": "NM_015638.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000252015.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2666A>G",
          "hgvs_p": "p.Asp889Gly",
          "transcript": "ENST00000970992.1",
          "protein_id": "ENSP00000641051.1",
          "transcript_support_level": null,
          "aa_start": 889,
          "aa_end": null,
          "aa_length": 895,
          "cds_start": 2666,
          "cds_end": null,
          "cds_length": 2688,
          "cdna_start": 2681,
          "cdna_end": null,
          "cdna_length": 3444,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970992.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2498A>G",
          "hgvs_p": "p.Asp833Gly",
          "transcript": "ENST00000888656.1",
          "protein_id": "ENSP00000558715.1",
          "transcript_support_level": null,
          "aa_start": 833,
          "aa_end": null,
          "aa_length": 839,
          "cds_start": 2498,
          "cds_end": null,
          "cds_length": 2520,
          "cdna_start": 2524,
          "cdna_end": null,
          "cdna_length": 3260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888656.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2474A>G",
          "hgvs_p": "p.Asp825Gly",
          "transcript": "ENST00000888655.1",
          "protein_id": "ENSP00000558714.1",
          "transcript_support_level": null,
          "aa_start": 825,
          "aa_end": null,
          "aa_length": 831,
          "cds_start": 2474,
          "cds_end": null,
          "cds_length": 2496,
          "cdna_start": 2486,
          "cdna_end": null,
          "cdna_length": 3242,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888655.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2432A>G",
          "hgvs_p": "p.Asp811Gly",
          "transcript": "ENST00000937644.1",
          "protein_id": "ENSP00000607703.1",
          "transcript_support_level": null,
          "aa_start": 811,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2432,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": 2458,
          "cdna_end": null,
          "cdna_length": 3219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937644.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2408A>G",
          "hgvs_p": "p.Asp803Gly",
          "transcript": "ENST00000970995.1",
          "protein_id": "ENSP00000641054.1",
          "transcript_support_level": null,
          "aa_start": 803,
          "aa_end": null,
          "aa_length": 809,
          "cds_start": 2408,
          "cds_end": null,
          "cds_length": 2430,
          "cdna_start": 2416,
          "cdna_end": null,
          "cdna_length": 3172,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970995.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2372A>G",
          "hgvs_p": "p.Asp791Gly",
          "transcript": "ENST00000888645.1",
          "protein_id": "ENSP00000558704.1",
          "transcript_support_level": null,
          "aa_start": 791,
          "aa_end": null,
          "aa_length": 797,
          "cds_start": 2372,
          "cds_end": null,
          "cds_length": 2394,
          "cdna_start": 2459,
          "cdna_end": null,
          "cdna_length": 2774,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888645.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2369A>G",
          "hgvs_p": "p.Asp790Gly",
          "transcript": "ENST00000937641.1",
          "protein_id": "ENSP00000607700.1",
          "transcript_support_level": null,
          "aa_start": 790,
          "aa_end": null,
          "aa_length": 796,
          "cds_start": 2369,
          "cds_end": null,
          "cds_length": 2391,
          "cdna_start": 2394,
          "cdna_end": null,
          "cdna_length": 3158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937641.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2369A>G",
          "hgvs_p": "p.Asp790Gly",
          "transcript": "ENST00000970990.1",
          "protein_id": "ENSP00000641049.1",
          "transcript_support_level": null,
          "aa_start": 790,
          "aa_end": null,
          "aa_length": 796,
          "cds_start": 2369,
          "cds_end": null,
          "cds_length": 2391,
          "cdna_start": 2395,
          "cdna_end": null,
          "cdna_length": 3158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970990.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2366A>G",
          "hgvs_p": "p.Asp789Gly",
          "transcript": "ENST00000888647.1",
          "protein_id": "ENSP00000558706.1",
          "transcript_support_level": null,
          "aa_start": 789,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 2366,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": 2392,
          "cdna_end": null,
          "cdna_length": 3156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888647.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2348A>G",
          "hgvs_p": "p.Asp783Gly",
          "transcript": "NM_199368.2",
          "protein_id": "NP_955400.1",
          "transcript_support_level": null,
          "aa_start": 783,
          "aa_end": null,
          "aa_length": 789,
          "cds_start": 2348,
          "cds_end": null,
          "cds_length": 2370,
          "cdna_start": 2374,
          "cdna_end": null,
          "cdna_length": 3138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_199368.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2348A>G",
          "hgvs_p": "p.Asp783Gly",
          "transcript": "ENST00000451813.6",
          "protein_id": "ENSP00000400614.1",
          "transcript_support_level": 2,
          "aa_start": 783,
          "aa_end": null,
          "aa_length": 789,
          "cds_start": 2348,
          "cds_end": null,
          "cds_length": 2370,
          "cdna_start": 2374,
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          "cdna_length": 3138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000451813.6"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2348A>G",
          "hgvs_p": "p.Asp783Gly",
          "transcript": "ENST00000970988.1",
          "protein_id": "ENSP00000641047.1",
          "transcript_support_level": null,
          "aa_start": 783,
          "aa_end": null,
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          "cds_start": 2348,
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          "cdna_start": 2429,
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
          "strand": false,
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          ],
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2345A>G",
          "hgvs_p": "p.Asp782Gly",
          "transcript": "ENST00000937646.1",
          "protein_id": "ENSP00000607705.1",
          "transcript_support_level": null,
          "aa_start": 782,
          "aa_end": null,
          "aa_length": 788,
          "cds_start": 2345,
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          "cdna_start": 2363,
          "cdna_end": null,
          "cdna_length": 3124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937646.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2345A>G",
          "hgvs_p": "p.Asp782Gly",
          "transcript": "ENST00000970994.1",
          "protein_id": "ENSP00000641053.1",
          "transcript_support_level": null,
          "aa_start": 782,
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          "cds_start": 2345,
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          "cds_length": 2367,
          "cdna_start": 2360,
          "cdna_end": null,
          "cdna_length": 3116,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000970994.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2342A>G",
          "hgvs_p": "p.Asp781Gly",
          "transcript": "ENST00000888654.1",
          "protein_id": "ENSP00000558713.1",
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": false,
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          "exon_count": 19,
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          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2342A>G",
          "hgvs_p": "p.Asp781Gly",
          "transcript": "ENST00000888657.1",
          "protein_id": "ENSP00000558716.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000888657.1"
        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2321A>G",
          "hgvs_p": "p.Asp774Gly",
          "transcript": "ENST00000970989.1",
          "protein_id": "ENSP00000641048.1",
          "transcript_support_level": null,
          "aa_start": 774,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 2321,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 2394,
          "cdna_end": null,
          "cdna_length": 3150,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970989.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.2312A>G",
          "hgvs_p": "p.Asp771Gly",
          "transcript": "ENST00000970991.1",
          "protein_id": "ENSP00000641050.1",
          "transcript_support_level": null,
          "aa_start": 771,
          "aa_end": null,
          "aa_length": 777,
          "cds_start": 2312,
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          "hgvs_p": "p.Asp453Gly",
          "transcript": "XM_047440101.1",
          "protein_id": "XP_047296057.1",
          "transcript_support_level": null,
          "aa_start": 453,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": 1358,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": 1574,
          "cdna_end": null,
          "cdna_length": 2338,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440101.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRPC4AP",
          "gene_hgnc_id": 16181,
          "hgvs_c": "c.1178A>G",
          "hgvs_p": "p.Asp393Gly",
          "transcript": "XM_047440102.1",
          "protein_id": "XP_047296058.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 1178,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 1407,
          "cdna_end": null,
          "cdna_length": 2171,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440102.1"
        }
      ],
      "gene_symbol": "TRPC4AP",
      "gene_hgnc_id": 16181,
      "dbsnp": "rs776308875",
      "frequency_reference_population": 0.000014249709,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 23,
      "gnomad_exomes_af": 0.0000136812,
      "gnomad_genomes_af": 0.0000197094,
      "gnomad_exomes_ac": 20,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.43996375799179077,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.413,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.3089,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.37,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 6.18,
      "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": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BS2",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_015638.3",
          "gene_symbol": "TRPC4AP",
          "hgnc_id": 16181,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2372A>G",
          "hgvs_p": "p.Asp791Gly"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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