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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: 11-32396400-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32396400&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 32396400,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000452863.10",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1121G>A",
          "hgvs_p": "p.Arg374Gln",
          "transcript": "NM_024426.6",
          "protein_id": "NP_077744.4",
          "transcript_support_level": null,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1121,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 3031,
          "mane_select": "ENST00000452863.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1121G>A",
          "hgvs_p": "p.Arg374Gln",
          "transcript": "ENST00000452863.10",
          "protein_id": "ENSP00000415516.5",
          "transcript_support_level": 1,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1121,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 3031,
          "mane_select": "NM_024426.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1070G>A",
          "hgvs_p": "p.Arg357Gln",
          "transcript": "ENST00000639563.4",
          "protein_id": "ENSP00000492269.3",
          "transcript_support_level": 1,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1070,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": 1249,
          "cdna_end": null,
          "cdna_length": 2980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1070G>A",
          "hgvs_p": "p.Arg357Gln",
          "transcript": "ENST00000332351.9",
          "protein_id": "ENSP00000331327.5",
          "transcript_support_level": 1,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1070,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1274,
          "cdna_end": null,
          "cdna_length": 2987,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.470G>A",
          "hgvs_p": "p.Arg157Gln",
          "transcript": "ENST00000379079.8",
          "protein_id": "ENSP00000368370.2",
          "transcript_support_level": 1,
          "aa_start": 157,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": 470,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": 744,
          "cdna_end": null,
          "cdna_length": 2466,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.446G>A",
          "hgvs_p": "p.Arg149Gln",
          "transcript": "ENST00000640146.2",
          "protein_id": "ENSP00000491984.2",
          "transcript_support_level": 1,
          "aa_start": 149,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 446,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 642,
          "cdna_end": null,
          "cdna_length": 2018,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "n.*305G>A",
          "hgvs_p": null,
          "transcript": "ENST00000379077.9",
          "protein_id": "ENSP00000368368.5",
          "transcript_support_level": 1,
          "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": 3186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "n.*305G>A",
          "hgvs_p": null,
          "transcript": "ENST00000379077.9",
          "protein_id": "ENSP00000368368.5",
          "transcript_support_level": 1,
          "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": 3186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1121G>A",
          "hgvs_p": "p.Arg374Gln",
          "transcript": "NM_024424.5",
          "protein_id": "NP_077742.3",
          "transcript_support_level": null,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1121,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 3022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1121G>A",
          "hgvs_p": "p.Arg374Gln",
          "transcript": "ENST00000448076.9",
          "protein_id": "ENSP00000413452.5",
          "transcript_support_level": 2,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1121,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 1296,
          "cdna_end": null,
          "cdna_length": 2114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1115G>A",
          "hgvs_p": "p.Arg372Gln",
          "transcript": "NM_001407044.1",
          "protein_id": "NP_001393973.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1115,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": 1294,
          "cdna_end": null,
          "cdna_length": 3016,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1070G>A",
          "hgvs_p": "p.Arg357Gln",
          "transcript": "NM_001407045.1",
          "protein_id": "NP_001393974.1",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1070,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": 1249,
          "cdna_end": null,
          "cdna_length": 2980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1070G>A",
          "hgvs_p": "p.Arg357Gln",
          "transcript": "NM_000378.6",
          "protein_id": "NP_000369.4",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1070,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1249,
          "cdna_end": null,
          "cdna_length": 2971,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1121G>A",
          "hgvs_p": "p.Arg374Gln",
          "transcript": "NM_001407046.1",
          "protein_id": "NP_001393975.1",
          "transcript_support_level": null,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": 1121,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 2938,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.998G>A",
          "hgvs_p": "p.Arg333Gln",
          "transcript": "NM_001407047.1",
          "protein_id": "NP_001393976.1",
          "transcript_support_level": null,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": 998,
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          "cds_length": 1437,
          "cdna_start": 1177,
          "cdna_end": null,
          "cdna_length": 2899,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1070G>A",
          "hgvs_p": "p.Arg357Gln",
          "transcript": "NM_001407048.1",
          "protein_id": "NP_001393977.1",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1070,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1249,
          "cdna_end": null,
          "cdna_length": 2890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1070G>A",
          "hgvs_p": "p.Arg357Gln",
          "transcript": "NM_001407049.1",
          "protein_id": "NP_001393978.1",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 1070,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": 1249,
          "cdna_end": null,
          "cdna_length": 2887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.947G>A",
          "hgvs_p": "p.Arg316Gln",
          "transcript": "NM_001407050.1",
          "protein_id": "NP_001393979.1",
          "transcript_support_level": null,
          "aa_start": 316,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 947,
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          "cds_length": 1395,
          "cdna_start": 1126,
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          "cdna_length": 2857,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.902G>A",
          "hgvs_p": "p.Arg301Gln",
          "transcript": "NM_001429031.1",
          "protein_id": "NP_001415960.1",
          "transcript_support_level": null,
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          "aa_length": 449,
          "cds_start": 902,
          "cds_end": null,
          "cds_length": 1350,
          "cdna_start": 1175,
          "cdna_end": null,
          "cdna_length": 2906,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.902G>A",
          "hgvs_p": "p.Arg301Gln",
          "transcript": "NM_001429032.1",
          "protein_id": "NP_001415961.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 902,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": 1175,
          "cdna_end": null,
          "cdna_length": 2897,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.902G>A",
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          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.-68G>A",
          "hgvs_p": null,
          "transcript": "NM_001367854.1",
          "protein_id": "NP_001354783.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 126,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 381,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2091,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "n.1113+3548G>A",
          "hgvs_p": null,
          "transcript": "ENST00000651459.3",
          "protein_id": "ENSP00000498574.3",
          "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": 2343,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "WT1",
      "gene_hgnc_id": 12796,
      "dbsnp": "rs772590420",
      "frequency_reference_population": 0.000006841892,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 10,
      "gnomad_exomes_af": 0.00000684189,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 10,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7045830488204956,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.512,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.02,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 7.905,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BS2_Supporting",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 1,
          "pathogenic_score": 0,
          "criteria": [
            "BS2_Supporting"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000452863.10",
          "gene_symbol": "WT1",
          "hgnc_id": 12796,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1121G>A",
          "hgvs_p": "p.Arg374Gln"
        }
      ],
      "clinvar_disease": "11p partial monosomy syndrome,6 conditions,Drash syndrome,Frasier syndrome,Inborn genetic diseases,Wilms tumor 1,not provided",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:6",
      "phenotype_combined": "not provided|Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|Wilms tumor 1|6 conditions|Drash syndrome|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}