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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-68936491-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68936491&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "11",
      "pos": 68936491,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000255078.8",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "c.2011A>G",
          "hgvs_p": "p.Thr671Ala",
          "transcript": "NM_002180.3",
          "protein_id": "NP_002171.2",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 993,
          "cds_start": 2011,
          "cds_end": null,
          "cds_length": 2982,
          "cdna_start": 2073,
          "cdna_end": null,
          "cdna_length": 3914,
          "mane_select": "ENST00000255078.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "c.2011A>G",
          "hgvs_p": "p.Thr671Ala",
          "transcript": "ENST00000255078.8",
          "protein_id": "ENSP00000255078.4",
          "transcript_support_level": 1,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 993,
          "cds_start": 2011,
          "cds_end": null,
          "cds_length": 2982,
          "cdna_start": 2073,
          "cdna_end": null,
          "cdna_length": 3914,
          "mane_select": "NM_002180.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "c.2011A>G",
          "hgvs_p": "p.Thr671Ala",
          "transcript": "ENST00000675615.1",
          "protein_id": "ENSP00000502413.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 875,
          "cds_start": 2011,
          "cds_end": null,
          "cds_length": 2628,
          "cdna_start": 2101,
          "cdna_end": null,
          "cdna_length": 2914,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Thr85Ala",
          "transcript": "ENST00000674675.1",
          "protein_id": "ENSP00000502787.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 308,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 927,
          "cdna_start": 255,
          "cdna_end": null,
          "cdna_length": 929,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "c.2011A>G",
          "hgvs_p": "p.Thr671Ala",
          "transcript": "XM_047426881.1",
          "protein_id": "XP_047282837.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 956,
          "cds_start": 2011,
          "cds_end": null,
          "cds_length": 2871,
          "cdna_start": 2073,
          "cdna_end": null,
          "cdna_length": 3015,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "c.1000A>G",
          "hgvs_p": "p.Thr334Ala",
          "transcript": "XM_017017670.3",
          "protein_id": "XP_016873159.1",
          "transcript_support_level": null,
          "aa_start": 334,
          "aa_end": null,
          "aa_length": 656,
          "cds_start": 1000,
          "cds_end": null,
          "cds_length": 1971,
          "cdna_start": 3265,
          "cdna_end": null,
          "cdna_length": 5106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Thr295Ala",
          "transcript": "XM_005273975.4",
          "protein_id": "XP_005274032.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 617,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 1854,
          "cdna_start": 2029,
          "cdna_end": null,
          "cdna_length": 3870,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "c.778A>G",
          "hgvs_p": "p.Thr260Ala",
          "transcript": "XM_011544994.2",
          "protein_id": "XP_011543296.1",
          "transcript_support_level": null,
          "aa_start": 260,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": 778,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": 3482,
          "cdna_end": null,
          "cdna_length": 5323,
          "mane_select": null,
          "mane_plus": null,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.1770A>G",
          "hgvs_p": null,
          "transcript": "ENST00000539064.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2346,
          "mane_select": null,
          "mane_plus": null,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.1004A>G",
          "hgvs_p": null,
          "transcript": "ENST00000543739.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2846,
          "mane_select": null,
          "mane_plus": null,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.253A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674878.1",
          "protein_id": "ENSP00000501899.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "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": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.*728A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674955.1",
          "protein_id": "ENSP00000502463.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.*1237A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675118.1",
          "protein_id": "ENSP00000501570.1",
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.286A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675389.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.1386A>G",
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          "transcript": "ENST00000675648.1",
          "protein_id": null,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.253A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675916.1",
          "protein_id": "ENSP00000501575.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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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": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.*2452A>G",
          "hgvs_p": null,
          "transcript": "ENST00000676173.2",
          "protein_id": "ENSP00000520445.1",
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        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.*338A>G",
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          "protein_id": "ENSP00000501625.1",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.*1334A>G",
          "hgvs_p": null,
          "transcript": "ENST00000676228.1",
          "protein_id": "ENSP00000502375.1",
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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": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.*728A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674955.1",
          "protein_id": "ENSP00000502463.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2512,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IGHMBP2",
          "gene_hgnc_id": 5542,
          "hgvs_c": "n.*1237A>G",
          "hgvs_p": null,
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          "protein_id": "ENSP00000501570.1",
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        {
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          "exon_count": 3,
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          "gene_symbol": "IGHMBP2",
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          "hgvs_c": "n.*45A>G",
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          "transcript": "ENST00000545475.1",
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          "cdna_length": 562,
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        }
      ],
      "gene_symbol": "IGHMBP2",
      "gene_hgnc_id": 5542,
      "dbsnp": "rs622082",
      "frequency_reference_population": 0.29542953,
      "hom_count_reference_population": 74641,
      "allele_count_reference_population": 476672,
      "gnomad_exomes_af": 0.300221,
      "gnomad_genomes_af": 0.249395,
      "gnomad_exomes_ac": 438739,
      "gnomad_genomes_ac": 37933,
      "gnomad_exomes_homalt": 69198,
      "gnomad_genomes_homalt": 5443,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0002512037754058838,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.185,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0527,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.58,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.576,
      "phylop100way_prediction": "Benign",
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000255078.8",
          "gene_symbol": "IGHMBP2",
          "hgnc_id": 5542,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2011A>G",
          "hgvs_p": "p.Thr671Ala"
        }
      ],
      "clinvar_disease": "Autosomal recessive distal spinal muscular atrophy 1,Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2S,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:9",
      "phenotype_combined": "not specified|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease|not provided|Autosomal recessive distal spinal muscular atrophy 1;Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease axonal type 2S",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}