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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: 9-730237-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=730237&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 730237,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_015158.5",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "NM_015158.5",
          "protein_id": "NP_055973.2",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3028,
          "cdna_end": null,
          "cdna_length": 5070,
          "mane_select": "ENST00000382297.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015158.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000382297.7",
          "protein_id": "ENSP00000371734.2",
          "transcript_support_level": 1,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3028,
          "cdna_end": null,
          "cdna_length": 5070,
          "mane_select": "NM_015158.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382297.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000382303.5",
          "protein_id": "ENSP00000371740.1",
          "transcript_support_level": 1,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3537,
          "cdna_end": null,
          "cdna_length": 5581,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382303.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2411C>T",
          "hgvs_p": "p.Ala804Val",
          "transcript": "ENST00000382293.7",
          "protein_id": "ENSP00000371730.3",
          "transcript_support_level": 1,
          "aa_start": 804,
          "aa_end": null,
          "aa_length": 1194,
          "cds_start": 2411,
          "cds_end": null,
          "cds_length": 3585,
          "cdna_start": 3207,
          "cdna_end": null,
          "cdna_length": 5249,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382293.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.224C>T",
          "hgvs_p": "p.Ala75Val",
          "transcript": "ENST00000382289.7",
          "protein_id": "ENSP00000371726.3",
          "transcript_support_level": 1,
          "aa_start": 75,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": 224,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": 279,
          "cdna_end": null,
          "cdna_length": 2315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382289.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.-47C>T",
          "hgvs_p": null,
          "transcript": "ENST00000382286.3",
          "protein_id": "ENSP00000371723.4",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382286.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000619269.5",
          "protein_id": "ENSP00000477725.2",
          "transcript_support_level": 5,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1375,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4128,
          "cdna_start": 3021,
          "cdna_end": null,
          "cdna_length": 5131,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000619269.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000903907.1",
          "protein_id": "ENSP00000573966.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1375,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4128,
          "cdna_start": 3008,
          "cdna_end": null,
          "cdna_length": 5118,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903907.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000949415.1",
          "protein_id": "ENSP00000619474.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1367,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4104,
          "cdna_start": 3310,
          "cdna_end": null,
          "cdna_length": 5394,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000949415.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "NM_001256876.3",
          "protein_id": "NP_001243805.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3533,
          "cdna_end": null,
          "cdna_length": 5575,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001256876.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "NM_001256877.3",
          "protein_id": "NP_001243806.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3643,
          "cdna_end": null,
          "cdna_length": 5685,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001256877.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "NM_001354334.2",
          "protein_id": "NP_001341263.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3188,
          "cdna_end": null,
          "cdna_length": 5230,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354334.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "NM_001438412.1",
          "protein_id": "NP_001425341.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3142,
          "cdna_end": null,
          "cdna_length": 5184,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438412.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000674102.1",
          "protein_id": "ENSP00000501167.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
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          "cds_length": 4059,
          "cdna_start": 3306,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674102.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000685947.1",
          "protein_id": "ENSP00000508833.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3238,
          "cdna_end": null,
          "cdna_length": 5276,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685947.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000689779.1",
          "protein_id": "ENSP00000508451.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3181,
          "cdna_end": null,
          "cdna_length": 5219,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000689779.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000903884.1",
          "protein_id": "ENSP00000573943.1",
          "transcript_support_level": null,
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          "aa_length": 1352,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000903885.1",
          "protein_id": "ENSP00000573944.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
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          "cdna_start": 3036,
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          "cdna_length": 5078,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000903885.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000903887.1",
          "protein_id": "ENSP00000573946.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 2885,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3726,
          "cdna_end": null,
          "cdna_length": 5768,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903887.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val",
          "transcript": "ENST00000903889.1",
          "protein_id": "ENSP00000573948.1",
          "transcript_support_level": null,
          "aa_start": 962,
          "aa_end": null,
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        {
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        {
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          "gene_symbol": "KANK1",
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000691645.1"
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      ],
      "gene_symbol": "KANK1",
      "gene_hgnc_id": 19309,
      "dbsnp": "rs1554713996",
      "frequency_reference_population": 0.000001368107,
      "hom_count_reference_population": 0,
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      "gnomad_exomes_af": 0.00000136811,
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      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.13049769401550293,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.11,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1138,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.53,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 5.413,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_015158.5",
          "gene_symbol": "KANK1",
          "hgnc_id": 19309,
          "effects": [
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          ],
          "inheritance_mode": "AR,Unknown,AD",
          "hgvs_c": "c.2885C>T",
          "hgvs_p": "p.Ala962Val"
        }
      ],
      "clinvar_disease": " 2, spastic quadriplegic,Cerebral palsy",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Cerebral palsy, spastic quadriplegic, 2",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.