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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: 7-108166977-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108166977&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 108166977,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000379028.8",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3410G>T",
          "hgvs_p": "p.Gly1137Val",
          "transcript": "NM_001037132.4",
          "protein_id": "NP_001032209.1",
          "transcript_support_level": null,
          "aa_start": 1137,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3410,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3935,
          "cdna_end": null,
          "cdna_length": 6701,
          "mane_select": "ENST00000379028.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3410G>T",
          "hgvs_p": "p.Gly1137Val",
          "transcript": "ENST00000379028.8",
          "protein_id": "ENSP00000368314.3",
          "transcript_support_level": 5,
          "aa_start": 1137,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3410,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3935,
          "cdna_end": null,
          "cdna_length": 6701,
          "mane_select": "NM_001037132.4",
          "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": 30,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3131-6485G>T",
          "hgvs_p": null,
          "transcript": "ENST00000379024.8",
          "protein_id": "ENSP00000368310.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1192,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3579,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5782,
          "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": 28,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3104-6485G>T",
          "hgvs_p": null,
          "transcript": "ENST00000351718.8",
          "protein_id": "ENSP00000325269.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1183,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3552,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3419G>T",
          "hgvs_p": "p.Gly1140Val",
          "transcript": "NM_001371156.1",
          "protein_id": "NP_001358085.1",
          "transcript_support_level": null,
          "aa_start": 1140,
          "aa_end": null,
          "aa_length": 1307,
          "cds_start": 3419,
          "cds_end": null,
          "cds_length": 3924,
          "cdna_start": 3944,
          "cdna_end": null,
          "cdna_length": 6710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3410G>T",
          "hgvs_p": "p.Gly1137Val",
          "transcript": "NM_001371131.1",
          "protein_id": "NP_001358060.1",
          "transcript_support_level": null,
          "aa_start": 1137,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3410,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 4016,
          "cdna_end": null,
          "cdna_length": 6782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3374G>T",
          "hgvs_p": "p.Gly1125Val",
          "transcript": "NM_001371169.1",
          "protein_id": "NP_001358098.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": 3374,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": 3899,
          "cdna_end": null,
          "cdna_length": 6665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3362G>T",
          "hgvs_p": "p.Gly1121Val",
          "transcript": "NM_001371119.1",
          "protein_id": "NP_001358048.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": 3362,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": 3744,
          "cdna_end": null,
          "cdna_length": 6510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3353G>T",
          "hgvs_p": "p.Gly1118Val",
          "transcript": "NM_001371124.1",
          "protein_id": "NP_001358053.1",
          "transcript_support_level": null,
          "aa_start": 1118,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3353,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 3735,
          "cdna_end": null,
          "cdna_length": 6501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3353G>T",
          "hgvs_p": "p.Gly1118Val",
          "transcript": "NM_001371126.1",
          "protein_id": "NP_001358055.1",
          "transcript_support_level": null,
          "aa_start": 1118,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3353,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 4032,
          "cdna_end": null,
          "cdna_length": 6798,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3353G>T",
          "hgvs_p": "p.Gly1118Val",
          "transcript": "NM_001371172.1",
          "protein_id": "NP_001358101.1",
          "transcript_support_level": null,
          "aa_start": 1118,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3353,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 3878,
          "cdna_end": null,
          "cdna_length": 6644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3317G>T",
          "hgvs_p": "p.Gly1106Val",
          "transcript": "NM_001371146.1",
          "protein_id": "NP_001358075.1",
          "transcript_support_level": null,
          "aa_start": 1106,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": 3317,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": 3842,
          "cdna_end": null,
          "cdna_length": 6608,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3248G>T",
          "hgvs_p": "p.Gly1083Val",
          "transcript": "NM_001371138.1",
          "protein_id": "NP_001358067.1",
          "transcript_support_level": null,
          "aa_start": 1083,
          "aa_end": null,
          "aa_length": 1250,
          "cds_start": 3248,
          "cds_end": null,
          "cds_length": 3753,
          "cdna_start": 3773,
          "cdna_end": null,
          "cdna_length": 6539,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3227G>T",
          "hgvs_p": "p.Gly1076Val",
          "transcript": "NM_001371158.1",
          "protein_id": "NP_001358087.1",
          "transcript_support_level": null,
          "aa_start": 1076,
          "aa_end": null,
          "aa_length": 1243,
          "cds_start": 3227,
          "cds_end": null,
          "cds_length": 3732,
          "cdna_start": 3752,
          "cdna_end": null,
          "cdna_length": 6518,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3065G>T",
          "hgvs_p": "p.Gly1022Val",
          "transcript": "NM_001371143.1",
          "protein_id": "NP_001358072.1",
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          "aa_start": 1022,
          "aa_end": null,
          "aa_length": 1189,
          "cds_start": 3065,
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          "cds_length": 3570,
          "cdna_start": 3666,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3065G>T",
          "hgvs_p": "p.Gly1022Val",
          "transcript": "NM_001371164.1",
          "protein_id": "NP_001358093.1",
          "transcript_support_level": null,
          "aa_start": 1022,
          "aa_end": null,
          "aa_length": 1189,
          "cds_start": 3065,
          "cds_end": null,
          "cds_length": 3570,
          "cdna_start": 3648,
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          "cdna_length": 6414,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3419G>T",
          "hgvs_p": "p.Gly1140Val",
          "transcript": "XM_011516253.3",
          "protein_id": "XP_011514555.1",
          "transcript_support_level": null,
          "aa_start": 1140,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 3419,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": 3944,
          "cdna_end": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
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          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3419G>T",
          "hgvs_p": "p.Gly1140Val",
          "transcript": "XM_011516255.2",
          "protein_id": "XP_011514557.1",
          "transcript_support_level": null,
          "aa_start": 1140,
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          "cdna_start": 3698,
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          "cdna_length": 6476,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3410G>T",
          "hgvs_p": "p.Gly1137Val",
          "transcript": "XM_006716003.3",
          "protein_id": "XP_006716066.1",
          "transcript_support_level": null,
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          "cds_start": 3410,
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          "cdna_start": 3935,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3401G>T",
          "hgvs_p": "p.Gly1134Val",
          "transcript": "XM_011516257.3",
          "protein_id": "XP_011514559.1",
          "transcript_support_level": null,
          "aa_start": 1134,
          "aa_end": null,
          "aa_length": 1305,
          "cds_start": 3401,
          "cds_end": null,
          "cds_length": 3918,
          "cdna_start": 3926,
          "cdna_end": null,
          "cdna_length": 6704,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
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      "gene_symbol": "NRCAM",
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      "gnomad_genomes_ac": null,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": 0.2051295042037964,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.42,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.641,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
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          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000379028.8",
          "gene_symbol": "NRCAM",
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          "effects": [
            "missense_variant"
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          "inheritance_mode": "AR",
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        {
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
          "transcript": "XR_002956579.2",
          "gene_symbol": "LOC102724363",
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          "effects": [
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          ],
          "inheritance_mode": "",
          "hgvs_c": "n.201+1030C>A",
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      ],
      "clinvar_disease": "Inborn genetic diseases",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  ],
  "message": null
}