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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: 2-108781398-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108781398&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 108781398,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000283195.11",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8729T>C",
          "hgvs_p": "p.Ile2910Thr",
          "transcript": "NM_006267.5",
          "protein_id": "NP_006258.3",
          "transcript_support_level": null,
          "aa_start": 2910,
          "aa_end": null,
          "aa_length": 3224,
          "cds_start": 8729,
          "cds_end": null,
          "cds_length": 9675,
          "cdna_start": 8854,
          "cdna_end": null,
          "cdna_length": 11708,
          "mane_select": "ENST00000283195.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8729T>C",
          "hgvs_p": "p.Ile2910Thr",
          "transcript": "ENST00000283195.11",
          "protein_id": "ENSP00000283195.6",
          "transcript_support_level": 1,
          "aa_start": 2910,
          "aa_end": null,
          "aa_length": 3224,
          "cds_start": 8729,
          "cds_end": null,
          "cds_length": 9675,
          "cdna_start": 8854,
          "cdna_end": null,
          "cdna_length": 11708,
          "mane_select": "NM_006267.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8807T>C",
          "hgvs_p": "p.Ile2936Thr",
          "transcript": "NM_001415871.1",
          "protein_id": "NP_001402800.1",
          "transcript_support_level": null,
          "aa_start": 2936,
          "aa_end": null,
          "aa_length": 3250,
          "cds_start": 8807,
          "cds_end": null,
          "cds_length": 9753,
          "cdna_start": 8932,
          "cdna_end": null,
          "cdna_length": 11786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8753T>C",
          "hgvs_p": "p.Ile2918Thr",
          "transcript": "NM_001415873.1",
          "protein_id": "NP_001402802.1",
          "transcript_support_level": null,
          "aa_start": 2918,
          "aa_end": null,
          "aa_length": 3232,
          "cds_start": 8753,
          "cds_end": null,
          "cds_length": 9699,
          "cdna_start": 8878,
          "cdna_end": null,
          "cdna_length": 11732,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8726T>C",
          "hgvs_p": "p.Ile2909Thr",
          "transcript": "NM_001415872.1",
          "protein_id": "NP_001402801.1",
          "transcript_support_level": null,
          "aa_start": 2909,
          "aa_end": null,
          "aa_length": 3223,
          "cds_start": 8726,
          "cds_end": null,
          "cds_length": 9672,
          "cdna_start": 8851,
          "cdna_end": null,
          "cdna_length": 11705,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.3617T>C",
          "hgvs_p": "p.Ile1206Thr",
          "transcript": "ENST00000697745.1",
          "protein_id": "ENSP00000513429.1",
          "transcript_support_level": null,
          "aa_start": 1206,
          "aa_end": null,
          "aa_length": 1520,
          "cds_start": 3617,
          "cds_end": null,
          "cds_length": 4563,
          "cdna_start": 3619,
          "cdna_end": null,
          "cdna_length": 6465,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.3482T>C",
          "hgvs_p": "p.Ile1161Thr",
          "transcript": "ENST00000697737.1",
          "protein_id": "ENSP00000513426.1",
          "transcript_support_level": null,
          "aa_start": 1161,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": 3482,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": 3602,
          "cdna_end": null,
          "cdna_length": 6457,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.3404T>C",
          "hgvs_p": "p.Ile1135Thr",
          "transcript": "ENST00000697740.1",
          "protein_id": "ENSP00000513427.1",
          "transcript_support_level": null,
          "aa_start": 1135,
          "aa_end": null,
          "aa_length": 1449,
          "cds_start": 3404,
          "cds_end": null,
          "cds_length": 4350,
          "cdna_start": 3516,
          "cdna_end": null,
          "cdna_length": 6371,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.1436T>C",
          "hgvs_p": "p.Ile479Thr",
          "transcript": "ENST00000697747.1",
          "protein_id": "ENSP00000513430.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 793,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 2382,
          "cdna_start": 1438,
          "cdna_end": null,
          "cdna_length": 4284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8831T>C",
          "hgvs_p": "p.Ile2944Thr",
          "transcript": "XM_005264002.4",
          "protein_id": "XP_005264059.1",
          "transcript_support_level": null,
          "aa_start": 2944,
          "aa_end": null,
          "aa_length": 3258,
          "cds_start": 8831,
          "cds_end": null,
          "cds_length": 9777,
          "cdna_start": 8956,
          "cdna_end": null,
          "cdna_length": 11810,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8828T>C",
          "hgvs_p": "p.Ile2943Thr",
          "transcript": "XM_011511575.3",
          "protein_id": "XP_011509877.1",
          "transcript_support_level": null,
          "aa_start": 2943,
          "aa_end": null,
          "aa_length": 3257,
          "cds_start": 8828,
          "cds_end": null,
          "cds_length": 9774,
          "cdna_start": 8953,
          "cdna_end": null,
          "cdna_length": 11807,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8654T>C",
          "hgvs_p": "p.Ile2885Thr",
          "transcript": "XM_011511576.4",
          "protein_id": "XP_011509878.1",
          "transcript_support_level": null,
          "aa_start": 2885,
          "aa_end": null,
          "aa_length": 3199,
          "cds_start": 8654,
          "cds_end": null,
          "cds_length": 9600,
          "cdna_start": 8779,
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          "cdna_length": 11633,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.5903T>C",
          "hgvs_p": "p.Ile1968Thr",
          "transcript": "XM_005264007.4",
          "protein_id": "XP_005264064.1",
          "transcript_support_level": null,
          "aa_start": 1968,
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          "aa_length": 2282,
          "cds_start": 5903,
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          "cdna_start": 6028,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.5900T>C",
          "hgvs_p": "p.Ile1967Thr",
          "transcript": "XM_011511578.3",
          "protein_id": "XP_011509880.1",
          "transcript_support_level": null,
          "aa_start": 1967,
          "aa_end": null,
          "aa_length": 2281,
          "cds_start": 5900,
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          "cds_length": 6846,
          "cdna_start": 6025,
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          "mane_select": null,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "n.*1207T>C",
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          "transcript": "ENST00000697744.1",
          "protein_id": "ENSP00000513428.1",
          "transcript_support_level": null,
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          "cdna_length": 7271,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "n.5470T>C",
          "hgvs_p": null,
          "transcript": "ENST00000697746.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 8316,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "n.4343T>C",
          "hgvs_p": null,
          "transcript": "ENST00000697748.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_length": 7189,
          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "n.2254T>C",
          "hgvs_p": null,
          "transcript": "ENST00000697749.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "n.960T>C",
          "hgvs_p": null,
          "transcript": "ENST00000697750.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4489,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "n.564T>C",
          "hgvs_p": null,
          "transcript": "ENST00000697751.1",
          "protein_id": null,
          "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": 1659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "n.*1207T>C",
          "hgvs_p": null,
          "transcript": "ENST00000697744.1",
          "protein_id": "ENSP00000513428.1",
          "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": 7271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "RANBP2",
          "gene_hgnc_id": 9848,
          "hgvs_c": "c.8370+8352T>C",
          "hgvs_p": null,
          "transcript": "XM_047445367.1",
          "protein_id": "XP_047301323.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2807,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9393,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "RANBP2",
      "gene_hgnc_id": 9848,
      "dbsnp": "rs575473077",
      "frequency_reference_population": 0.000014248985,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 23,
      "gnomad_exomes_af": 0.0000136814,
      "gnomad_genomes_af": 0.0000196969,
      "gnomad_exomes_ac": 20,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.5255463123321533,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.254,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.7405,
      "alphamissense_prediction": "Pathogenic",
      "bayesdelnoaf_score": -0.13,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 7.02,
      "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": "Likely_benign",
      "acmg_criteria": "BS2_Supporting",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 1,
          "pathogenic_score": 0,
          "criteria": [
            "BS2_Supporting"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000283195.11",
          "gene_symbol": "RANBP2",
          "hgnc_id": 9848,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.8729T>C",
          "hgvs_p": "p.Ile2910Thr"
        }
      ],
      "clinvar_disease": "Familial acute necrotizing encephalopathy,not provided,not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:3",
      "phenotype_combined": "Familial acute necrotizing encephalopathy|not provided|not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}