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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: X-63724557-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=63724557&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 63724557,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000671741.2",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.185G>C",
          "hgvs_p": "p.Gly62Ala",
          "transcript": "NM_001353921.2",
          "protein_id": "NP_001340850.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": 185,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": 254,
          "cdna_end": null,
          "cdna_length": 4702,
          "mane_select": "ENST00000671741.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.185G>C",
          "hgvs_p": "p.Gly62Ala",
          "transcript": "ENST00000671741.2",
          "protein_id": "ENSP00000500715.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": 185,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": 254,
          "cdna_end": null,
          "cdna_length": 4702,
          "mane_select": "NM_001353921.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.164G>C",
          "hgvs_p": "p.Gly55Ala",
          "transcript": "ENST00000253401.10",
          "protein_id": "ENSP00000253401.6",
          "transcript_support_level": 1,
          "aa_start": 55,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 164,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 965,
          "cdna_end": null,
          "cdna_length": 5413,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.185G>C",
          "hgvs_p": "p.Gly62Ala",
          "transcript": "ENST00000374878.5",
          "protein_id": "ENSP00000364012.2",
          "transcript_support_level": 1,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": 185,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": 586,
          "cdna_end": null,
          "cdna_length": 2217,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.-117-18108G>C",
          "hgvs_p": null,
          "transcript": "ENST00000624843.3",
          "protein_id": "ENSP00000485626.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2154,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.164G>C",
          "hgvs_p": "p.Gly55Ala",
          "transcript": "ENST00000374870.8",
          "protein_id": "ENSP00000364004.5",
          "transcript_support_level": 5,
          "aa_start": 55,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": 164,
          "cds_end": null,
          "cds_length": 1695,
          "cdna_start": 941,
          "cdna_end": null,
          "cdna_length": 4644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.203G>C",
          "hgvs_p": "p.Gly68Ala",
          "transcript": "NM_001353923.1",
          "protein_id": "NP_001340852.1",
          "transcript_support_level": null,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 203,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": 214,
          "cdna_end": null,
          "cdna_length": 4662,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.203G>C",
          "hgvs_p": "p.Gly68Ala",
          "transcript": "ENST00000635729.1",
          "protein_id": "ENSP00000490940.1",
          "transcript_support_level": 5,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 203,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": 214,
          "cdna_end": null,
          "cdna_length": 1761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.164G>C",
          "hgvs_p": "p.Gly55Ala",
          "transcript": "NM_001369030.1",
          "protein_id": "NP_001355959.1",
          "transcript_support_level": null,
          "aa_start": 55,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 164,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 731,
          "cdna_end": null,
          "cdna_length": 5179,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.164G>C",
          "hgvs_p": "p.Gly55Ala",
          "transcript": "NM_001369031.1",
          "protein_id": "NP_001355960.1",
          "transcript_support_level": null,
          "aa_start": 55,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 164,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 727,
          "cdna_end": null,
          "cdna_length": 5175,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.164G>C",
          "hgvs_p": "p.Gly55Ala",
          "transcript": "NM_001369032.1",
          "protein_id": "NP_001355961.1",
          "transcript_support_level": null,
          "aa_start": 55,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 164,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 971,
          "cdna_end": null,
          "cdna_length": 5419,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.164G>C",
          "hgvs_p": "p.Gly55Ala",
          "transcript": "NM_015185.3",
          "protein_id": "NP_056000.1",
          "transcript_support_level": null,
          "aa_start": 55,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 164,
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          "cds_length": 1551,
          "cdna_start": 975,
          "cdna_end": null,
          "cdna_length": 5423,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.164G>C",
          "hgvs_p": "p.Gly55Ala",
          "transcript": "ENST00000671907.1",
          "protein_id": "ENSP00000500829.1",
          "transcript_support_level": null,
          "aa_start": 55,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 164,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 686,
          "cdna_end": null,
          "cdna_length": 5117,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.101G>C",
          "hgvs_p": "p.Gly34Ala",
          "transcript": "ENST00000638021.1",
          "protein_id": "ENSP00000490410.1",
          "transcript_support_level": 5,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 101,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": 596,
          "cdna_end": null,
          "cdna_length": 3876,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.101G>C",
          "hgvs_p": "p.Gly34Ala",
          "transcript": "NM_001330495.2",
          "protein_id": "NP_001317424.1",
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          "cds_start": 101,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 331,
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          "cdna_length": 4779,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.101G>C",
          "hgvs_p": "p.Gly34Ala",
          "transcript": "NM_001369033.1",
          "protein_id": "NP_001355962.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 101,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 964,
          "cdna_end": null,
          "cdna_length": 5412,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.101G>C",
          "hgvs_p": "p.Gly34Ala",
          "transcript": "NM_001369034.1",
          "protein_id": "NP_001355963.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 101,
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          "cds_length": 1488,
          "cdna_start": 720,
          "cdna_end": null,
          "cdna_length": 5168,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.101G>C",
          "hgvs_p": "p.Gly34Ala",
          "transcript": "NM_001369035.1",
          "protein_id": "NP_001355964.1",
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          "cds_start": 101,
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          "mane_select": null,
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        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.101G>C",
          "hgvs_p": "p.Gly34Ala",
          "transcript": "NM_001369036.1",
          "protein_id": "NP_001355965.1",
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          "cdna_start": 1042,
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          "cdna_length": 5490,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
          "hgvs_c": "c.101G>C",
          "hgvs_p": "p.Gly34Ala",
          "transcript": "NM_001369037.1",
          "protein_id": "NP_001355966.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 101,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 927,
          "cdna_end": null,
          "cdna_length": 5375,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARHGEF9",
          "gene_hgnc_id": 14561,
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          "aa_length": 107,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 324,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ARHGEF9",
      "gene_hgnc_id": 14561,
      "dbsnp": "rs121918361",
      "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": 0.9764643907546997,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.768,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.8096,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.43,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 5.839,
      "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": 7,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PP3_Strong,PP5",
      "acmg_by_gene": [
        {
          "score": 7,
          "benign_score": 0,
          "pathogenic_score": 7,
          "criteria": [
            "PM2",
            "PP3_Strong",
            "PP5"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000671741.2",
          "gene_symbol": "ARHGEF9",
          "hgnc_id": 14561,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "XL",
          "hgvs_c": "c.185G>C",
          "hgvs_p": "p.Gly62Ala"
        }
      ],
      "clinvar_disease": " 8,Developmental and epileptic encephalopathy",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Developmental and epileptic encephalopathy, 8",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}