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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: 9-137110905-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137110905&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 137110905,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001438108.1",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1318G>T",
          "hgvs_p": "p.Gly440Trp",
          "transcript": "NM_013379.3",
          "protein_id": "NP_037511.2",
          "transcript_support_level": null,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1318,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000371579.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_013379.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1318G>T",
          "hgvs_p": "p.Gly440Trp",
          "transcript": "ENST00000371579.7",
          "protein_id": "ENSP00000360635.2",
          "transcript_support_level": 1,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1318,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_013379.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371579.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1456G>T",
          "hgvs_p": "p.Gly486Trp",
          "transcript": "ENST00000894946.1",
          "protein_id": "ENSP00000565005.1",
          "transcript_support_level": null,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 538,
          "cds_start": 1456,
          "cds_end": null,
          "cds_length": 1617,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894946.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1405G>T",
          "hgvs_p": "p.Gly469Trp",
          "transcript": "ENST00000894945.1",
          "protein_id": "ENSP00000565004.1",
          "transcript_support_level": null,
          "aa_start": 469,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1405,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894945.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1384G>T",
          "hgvs_p": "p.Gly462Trp",
          "transcript": "NM_001438108.1",
          "protein_id": "NP_001425037.1",
          "transcript_support_level": null,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": 1384,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438108.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1342G>T",
          "hgvs_p": "p.Gly448Trp",
          "transcript": "ENST00000894950.1",
          "protein_id": "ENSP00000565009.1",
          "transcript_support_level": null,
          "aa_start": 448,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1342,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894950.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1315G>T",
          "hgvs_p": "p.Gly439Trp",
          "transcript": "ENST00000894947.1",
          "protein_id": "ENSP00000565006.1",
          "transcript_support_level": null,
          "aa_start": 439,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": 1315,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894947.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1303G>T",
          "hgvs_p": "p.Gly435Trp",
          "transcript": "ENST00000718335.1",
          "protein_id": "ENSP00000520772.1",
          "transcript_support_level": null,
          "aa_start": 435,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": 1303,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000718335.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1300G>T",
          "hgvs_p": "p.Gly434Trp",
          "transcript": "ENST00000894943.1",
          "protein_id": "ENSP00000565002.1",
          "transcript_support_level": null,
          "aa_start": 434,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1300,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894943.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1297G>T",
          "hgvs_p": "p.Gly433Trp",
          "transcript": "ENST00000960840.1",
          "protein_id": "ENSP00000630899.1",
          "transcript_support_level": null,
          "aa_start": 433,
          "aa_end": null,
          "aa_length": 485,
          "cds_start": 1297,
          "cds_end": null,
          "cds_length": 1458,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960840.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1285G>T",
          "hgvs_p": "p.Gly429Trp",
          "transcript": "ENST00000960841.1",
          "protein_id": "ENSP00000630900.1",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960841.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1282G>T",
          "hgvs_p": "p.Gly428Trp",
          "transcript": "ENST00000894944.1",
          "protein_id": "ENSP00000565003.1",
          "transcript_support_level": null,
          "aa_start": 428,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1282,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894944.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1282G>T",
          "hgvs_p": "p.Gly428Trp",
          "transcript": "ENST00000894948.1",
          "protein_id": "ENSP00000565007.1",
          "transcript_support_level": null,
          "aa_start": 428,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1282,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894948.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1279G>T",
          "hgvs_p": "p.Gly427Trp",
          "transcript": "ENST00000960839.1",
          "protein_id": "ENSP00000630898.1",
          "transcript_support_level": null,
          "aa_start": 427,
          "aa_end": null,
          "aa_length": 479,
          "cds_start": 1279,
          "cds_end": null,
          "cds_length": 1440,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960839.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1246G>T",
          "hgvs_p": "p.Gly416Trp",
          "transcript": "ENST00000894949.1",
          "protein_id": "ENSP00000565008.1",
          "transcript_support_level": null,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": 1246,
          "cds_end": null,
          "cds_length": 1407,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894949.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1316G>T",
          "hgvs_p": "p.Gly439Val",
          "transcript": "NM_001438109.1",
          "protein_id": "NP_001425038.1",
          "transcript_support_level": null,
          "aa_start": 439,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": 1316,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438109.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1250G>T",
          "hgvs_p": "p.Gly417Val",
          "transcript": "NM_001438110.1",
          "protein_id": "NP_001425039.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 436,
          "cds_start": 1250,
          "cds_end": null,
          "cds_length": 1311,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438110.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1250G>T",
          "hgvs_p": "p.Gly417Val",
          "transcript": "ENST00000718334.1",
          "protein_id": "ENSP00000520771.1",
          "transcript_support_level": null,
          "aa_start": 417,
          "aa_end": null,
          "aa_length": 436,
          "cds_start": 1250,
          "cds_end": null,
          "cds_length": 1311,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000718334.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1294G>T",
          "hgvs_p": "p.Gly432Trp",
          "transcript": "XM_011518600.2",
          "protein_id": "XP_011516902.1",
          "transcript_support_level": null,
          "aa_start": 432,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": 1294,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011518600.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "c.1174G>T",
          "hgvs_p": "p.Gly392Trp",
          "transcript": "XM_047423280.1",
          "protein_id": "XP_047279236.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": 1174,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "n.*689G>T",
          "hgvs_p": null,
          "transcript": "ENST00000706879.1",
          "protein_id": "ENSP00000516598.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000706879.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DPP7",
          "gene_hgnc_id": 14892,
          "hgvs_c": "n.*246G>T",
          "hgvs_p": null,
          "transcript": "ENST00000706881.1",
          "protein_id": "ENSP00000516599.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000706881.1"
        }
      ],
      "gene_symbol": "DPP7",
      "gene_hgnc_id": 14892,
      "dbsnp": "rs777774924",
      "frequency_reference_population": 0.0000041075973,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": 0.0000041076,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 6,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9622223377227783,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.73,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.6559,
      "alphamissense_prediction": "Pathogenic",
      "bayesdelnoaf_score": 0.1,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 3.568,
      "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": 6,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PP3_Strong",
      "acmg_by_gene": [
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_001438108.1",
          "gene_symbol": "DPP7",
          "hgnc_id": 14892,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1384G>T",
          "hgvs_p": "p.Gly462Trp"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}