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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: 18-55222481-GAA-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55222481&ref=GAA&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 55222481,
      "ref": "GAA",
      "alt": "G",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001243226.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001083962.2",
          "protein_id": "NP_001077431.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000354452.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001083962.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "ENST00000354452.8",
          "protein_id": "ENSP00000346440.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001083962.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354452.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "ENST00000356073.8",
          "protein_id": "ENSP00000348374.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000356073.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001243226.3",
          "protein_id": "NP_001230155.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243226.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "ENST00000638154.3",
          "protein_id": "ENSP00000490625.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 680,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2043,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638154.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001243228.2",
          "protein_id": "NP_001230157.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243228.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001369567.1",
          "protein_id": "NP_001356496.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369567.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001369568.1",
          "protein_id": "NP_001356497.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 671,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369568.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001330604.3",
          "protein_id": "NP_001317533.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001330604.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001369569.1",
          "protein_id": "NP_001356498.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369569.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001369570.1",
          "protein_id": "NP_001356499.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": null,
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          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369570.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001369571.1",
          "protein_id": "NP_001356500.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 667,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 20,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "TCF4",
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          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001369572.1",
          "protein_id": "NP_001356501.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001369572.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_003199.3",
          "protein_id": "NP_003190.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        },
        {
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          ],
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          "gene_symbol": "TCF4",
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          "transcript": "NM_001369573.1",
          "protein_id": "NP_001356502.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001369573.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001369574.1",
          "protein_id": "NP_001356503.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001243230.2",
          "protein_id": "NP_001230159.1",
          "transcript_support_level": null,
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
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          "transcript": "NM_001369586.1",
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        },
        {
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          "protein_coding": true,
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          ],
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          "gene_symbol": "TCF4",
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          "hgvs_c": "c.*5552_*5553delTT",
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          "transcript": "NM_001243227.2",
          "protein_id": "NP_001230156.1",
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          "feature": "NM_001243227.2"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null,
          "transcript": "NM_001348217.1",
          "protein_id": "NP_001335146.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 647,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "n.*7446_*7447delTT",
          "hgvs_p": null,
          "transcript": "ENST00000637115.2",
          "protein_id": "ENSP00000490234.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000637115.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF4",
          "gene_hgnc_id": 11634,
          "hgvs_c": "n.*6868_*6869delTT",
          "hgvs_p": null,
          "transcript": "ENST00000637923.2",
          "protein_id": "ENSP00000490329.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000637923.2"
        }
      ],
      "gene_symbol": "TCF4",
      "gene_hgnc_id": 11634,
      "dbsnp": "rs71670792",
      "frequency_reference_population": 0.0000069833377,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": 0.00000698334,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 3.551,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001243226.3",
          "gene_symbol": "TCF4",
          "hgnc_id": 11634,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.*5552_*5553delTT",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}