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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: 7-27538416-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=27538416&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 27538416,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_152740.4",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.620C>T",
          "hgvs_p": "p.Ala207Val",
          "transcript": "NM_152740.4",
          "protein_id": "NP_689953.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": 620,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000265395.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_152740.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.620C>T",
          "hgvs_p": "p.Ala207Val",
          "transcript": "ENST00000265395.7",
          "protein_id": "ENSP00000265395.2",
          "transcript_support_level": 1,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": 620,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_152740.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265395.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.812C>T",
          "hgvs_p": "p.Ala271Val",
          "transcript": "ENST00000879285.1",
          "protein_id": "ENSP00000549344.1",
          "transcript_support_level": null,
          "aa_start": 271,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": 812,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879285.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.746C>T",
          "hgvs_p": "p.Ala249Val",
          "transcript": "ENST00000939048.1",
          "protein_id": "ENSP00000609107.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 378,
          "cds_start": 746,
          "cds_end": null,
          "cds_length": 1137,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939048.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.731C>T",
          "hgvs_p": "p.Ala244Val",
          "transcript": "ENST00000956051.1",
          "protein_id": "ENSP00000626110.1",
          "transcript_support_level": null,
          "aa_start": 244,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 731,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956051.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.719C>T",
          "hgvs_p": "p.Ala240Val",
          "transcript": "ENST00000956052.1",
          "protein_id": "ENSP00000626111.1",
          "transcript_support_level": null,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 369,
          "cds_start": 719,
          "cds_end": null,
          "cds_length": 1110,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956052.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.656C>T",
          "hgvs_p": "p.Ala219Val",
          "transcript": "ENST00000879284.1",
          "protein_id": "ENSP00000549343.1",
          "transcript_support_level": null,
          "aa_start": 219,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": 656,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879284.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.617C>T",
          "hgvs_p": "p.Ala206Val",
          "transcript": "ENST00000939047.1",
          "protein_id": "ENSP00000609106.1",
          "transcript_support_level": null,
          "aa_start": 206,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": 617,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939047.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.614C>T",
          "hgvs_p": "p.Ala205Val",
          "transcript": "ENST00000879280.1",
          "protein_id": "ENSP00000549339.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": 614,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879280.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.605C>T",
          "hgvs_p": "p.Ala202Val",
          "transcript": "ENST00000879286.1",
          "protein_id": "ENSP00000549345.1",
          "transcript_support_level": null,
          "aa_start": 202,
          "aa_end": null,
          "aa_length": 331,
          "cds_start": 605,
          "cds_end": null,
          "cds_length": 996,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879286.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.482C>T",
          "hgvs_p": "p.Ala161Val",
          "transcript": "ENST00000879282.1",
          "protein_id": "ENSP00000549341.1",
          "transcript_support_level": null,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879282.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.455C>T",
          "hgvs_p": "p.Ala152Val",
          "transcript": "ENST00000956050.1",
          "protein_id": "ENSP00000626109.1",
          "transcript_support_level": null,
          "aa_start": 152,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": 455,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956050.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.452C>T",
          "hgvs_p": "p.Ala151Val",
          "transcript": "ENST00000956049.1",
          "protein_id": "ENSP00000626108.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 280,
          "cds_start": 452,
          "cds_end": null,
          "cds_length": 843,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956049.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.443C>T",
          "hgvs_p": "p.Ala148Val",
          "transcript": "ENST00000879283.1",
          "protein_id": "ENSP00000549342.1",
          "transcript_support_level": null,
          "aa_start": 148,
          "aa_end": null,
          "aa_length": 277,
          "cds_start": 443,
          "cds_end": null,
          "cds_length": 834,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879283.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.440C>T",
          "hgvs_p": "p.Ala147Val",
          "transcript": "ENST00000879279.1",
          "protein_id": "ENSP00000549338.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 440,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879279.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.317C>T",
          "hgvs_p": "p.Ala106Val",
          "transcript": "NM_001430749.1",
          "protein_id": "NP_001417678.1",
          "transcript_support_level": null,
          "aa_start": 106,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 317,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001430749.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.227C>T",
          "hgvs_p": "p.Ala76Val",
          "transcript": "ENST00000879281.1",
          "protein_id": "ENSP00000549340.1",
          "transcript_support_level": null,
          "aa_start": 76,
          "aa_end": null,
          "aa_length": 205,
          "cds_start": 227,
          "cds_end": null,
          "cds_length": 618,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879281.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.446C>T",
          "hgvs_p": "p.Ala149Val",
          "transcript": "ENST00000425715.1",
          "protein_id": "ENSP00000390205.1",
          "transcript_support_level": 2,
          "aa_start": 149,
          "aa_end": null,
          "aa_length": 204,
          "cds_start": 446,
          "cds_end": null,
          "cds_length": 616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000425715.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.317C>T",
          "hgvs_p": "p.Ala106Val",
          "transcript": "XM_047419834.1",
          "protein_id": "XP_047275790.1",
          "transcript_support_level": null,
          "aa_start": 106,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 317,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047419834.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HIBADH",
          "gene_hgnc_id": 4907,
          "hgvs_c": "c.317C>T",
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          "cds_length": 708,
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        {
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          "biotype": "protein_coding",
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        {
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          "protein_coding": false,
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            "non_coding_transcript_exon_variant"
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        {
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          "transcript": "ENST00000428288.2",
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          "biotype": "nonsense_mediated_decay",
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      ],
      "gene_symbol": "HIBADH",
      "gene_hgnc_id": 4907,
      "dbsnp": "rs755307559",
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      "hom_count_reference_population": 0,
      "allele_count_reference_population": 25,
      "gnomad_exomes_af": 0.0000143887,
      "gnomad_genomes_af": 0.0000262988,
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      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.4693496525287628,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.7960000038146973,
      "splice_prediction_selected": "Pathogenic",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": 0.209,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.3184,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.25,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 7.864,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.987062890216108,
      "dbscsnv_ada_prediction": "Pathogenic",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_152740.4",
          "gene_symbol": "HIBADH",
          "hgnc_id": 4907,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.620C>T",
          "hgvs_p": "p.Ala207Val"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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