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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: 11-32396386-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32396386&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 32396386,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000452863.10",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1135G>C",
          "hgvs_p": "p.Val379Leu",
          "transcript": "NM_024426.6",
          "protein_id": "NP_077744.4",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1135,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": 1314,
          "cdna_end": null,
          "cdna_length": 3031,
          "mane_select": "ENST00000452863.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1135G>C",
          "hgvs_p": "p.Val379Leu",
          "transcript": "ENST00000452863.10",
          "protein_id": "ENSP00000415516.5",
          "transcript_support_level": 1,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1135,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": 1314,
          "cdna_end": null,
          "cdna_length": 3031,
          "mane_select": "NM_024426.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1084G>C",
          "hgvs_p": "p.Val362Leu",
          "transcript": "ENST00000639563.4",
          "protein_id": "ENSP00000492269.3",
          "transcript_support_level": 1,
          "aa_start": 362,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1084,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": 1263,
          "cdna_end": null,
          "cdna_length": 2980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1084G>C",
          "hgvs_p": "p.Val362Leu",
          "transcript": "ENST00000332351.9",
          "protein_id": "ENSP00000331327.5",
          "transcript_support_level": 1,
          "aa_start": 362,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1084,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1288,
          "cdna_end": null,
          "cdna_length": 2987,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.484G>C",
          "hgvs_p": "p.Val162Leu",
          "transcript": "ENST00000379079.8",
          "protein_id": "ENSP00000368370.2",
          "transcript_support_level": 1,
          "aa_start": 162,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": 484,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": 758,
          "cdna_end": null,
          "cdna_length": 2466,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.460G>C",
          "hgvs_p": "p.Val154Leu",
          "transcript": "ENST00000640146.2",
          "protein_id": "ENSP00000491984.2",
          "transcript_support_level": 1,
          "aa_start": 154,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 460,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 656,
          "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.*319G>C",
          "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.*319G>C",
          "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": "V",
          "aa_alt": "L",
          "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.1135G>C",
          "hgvs_p": "p.Val379Leu",
          "transcript": "NM_024424.5",
          "protein_id": "NP_077742.3",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1135,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 1314,
          "cdna_end": null,
          "cdna_length": 3022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1135G>C",
          "hgvs_p": "p.Val379Leu",
          "transcript": "ENST00000448076.9",
          "protein_id": "ENSP00000413452.5",
          "transcript_support_level": 2,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1135,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 1310,
          "cdna_end": null,
          "cdna_length": 2114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1129G>C",
          "hgvs_p": "p.Val377Leu",
          "transcript": "NM_001407044.1",
          "protein_id": "NP_001393973.1",
          "transcript_support_level": null,
          "aa_start": 377,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1129,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": 1308,
          "cdna_end": null,
          "cdna_length": 3016,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1084G>C",
          "hgvs_p": "p.Val362Leu",
          "transcript": "NM_001407045.1",
          "protein_id": "NP_001393974.1",
          "transcript_support_level": null,
          "aa_start": 362,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1084,
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          "cdna_start": 1263,
          "cdna_end": null,
          "cdna_length": 2980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1084G>C",
          "hgvs_p": "p.Val362Leu",
          "transcript": "NM_000378.6",
          "protein_id": "NP_000369.4",
          "transcript_support_level": null,
          "aa_start": 362,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1084,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1263,
          "cdna_end": null,
          "cdna_length": 2971,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1135G>C",
          "hgvs_p": "p.Val379Leu",
          "transcript": "NM_001407046.1",
          "protein_id": "NP_001393975.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": 1135,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": 1314,
          "cdna_end": null,
          "cdna_length": 2938,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1012G>C",
          "hgvs_p": "p.Val338Leu",
          "transcript": "NM_001407047.1",
          "protein_id": "NP_001393976.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 478,
          "cds_start": 1012,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": 1191,
          "cdna_end": null,
          "cdna_length": 2899,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1084G>C",
          "hgvs_p": "p.Val362Leu",
          "transcript": "NM_001407048.1",
          "protein_id": "NP_001393977.1",
          "transcript_support_level": null,
          "aa_start": 362,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1084,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1263,
          "cdna_end": null,
          "cdna_length": 2890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.1084G>C",
          "hgvs_p": "p.Val362Leu",
          "transcript": "NM_001407049.1",
          "protein_id": "NP_001393978.1",
          "transcript_support_level": null,
          "aa_start": 362,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 1084,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": 1263,
          "cdna_end": null,
          "cdna_length": 2887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.961G>C",
          "hgvs_p": "p.Val321Leu",
          "transcript": "NM_001407050.1",
          "protein_id": "NP_001393979.1",
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          "aa_length": 464,
          "cds_start": 961,
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          "cds_length": 1395,
          "cdna_start": 1140,
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          "cdna_length": 2857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.916G>C",
          "hgvs_p": "p.Val306Leu",
          "transcript": "NM_001429031.1",
          "protein_id": "NP_001415960.1",
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          "aa_end": null,
          "aa_length": 449,
          "cds_start": 916,
          "cds_end": null,
          "cds_length": 1350,
          "cdna_start": 1189,
          "cdna_end": null,
          "cdna_length": 2906,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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.916G>C",
          "hgvs_p": "p.Val306Leu",
          "transcript": "NM_001429032.1",
          "protein_id": "NP_001415961.1",
          "transcript_support_level": null,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 916,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": 1189,
          "cdna_end": null,
          "cdna_length": 2897,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "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,
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          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.-54G>C",
          "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+3562G>C",
          "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": "rs755936509",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.3905925750732422,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.316,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.18,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.581,
      "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": "ENST00000452863.10",
          "gene_symbol": "WT1",
          "hgnc_id": 12796,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1135G>C",
          "hgvs_p": "p.Val379Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}