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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: 7-108149936-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108149936&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 108149936,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000379028.8",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3889G>C",
          "hgvs_p": "p.Val1297Leu",
          "transcript": "NM_001037132.4",
          "protein_id": "NP_001032209.1",
          "transcript_support_level": null,
          "aa_start": 1297,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3889,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 4414,
          "cdna_end": null,
          "cdna_length": 6701,
          "mane_select": "ENST00000379028.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3889G>C",
          "hgvs_p": "p.Val1297Leu",
          "transcript": "ENST00000379028.8",
          "protein_id": "ENSP00000368314.3",
          "transcript_support_level": 5,
          "aa_start": 1297,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3889,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 4414,
          "cdna_end": null,
          "cdna_length": 6701,
          "mane_select": "NM_001037132.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3553G>C",
          "hgvs_p": "p.Val1185Leu",
          "transcript": "ENST00000379024.8",
          "protein_id": "ENSP00000368310.4",
          "transcript_support_level": 1,
          "aa_start": 1185,
          "aa_end": null,
          "aa_length": 1192,
          "cds_start": 3553,
          "cds_end": null,
          "cds_length": 3579,
          "cdna_start": 3963,
          "cdna_end": null,
          "cdna_length": 5782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3526G>C",
          "hgvs_p": "p.Val1176Leu",
          "transcript": "ENST00000351718.8",
          "protein_id": "ENSP00000325269.6",
          "transcript_support_level": 1,
          "aa_start": 1176,
          "aa_end": null,
          "aa_length": 1183,
          "cds_start": 3526,
          "cds_end": null,
          "cds_length": 3552,
          "cdna_start": 3954,
          "cdna_end": null,
          "cdna_length": 6228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "n.522G>C",
          "hgvs_p": null,
          "transcript": "ENST00000522550.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 2835,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3898G>C",
          "hgvs_p": "p.Val1300Leu",
          "transcript": "NM_001371156.1",
          "protein_id": "NP_001358085.1",
          "transcript_support_level": null,
          "aa_start": 1300,
          "aa_end": null,
          "aa_length": 1307,
          "cds_start": 3898,
          "cds_end": null,
          "cds_length": 3924,
          "cdna_start": 4423,
          "cdna_end": null,
          "cdna_length": 6710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3889G>C",
          "hgvs_p": "p.Val1297Leu",
          "transcript": "NM_001371131.1",
          "protein_id": "NP_001358060.1",
          "transcript_support_level": null,
          "aa_start": 1297,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3889,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 4495,
          "cdna_end": null,
          "cdna_length": 6782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3853G>C",
          "hgvs_p": "p.Val1285Leu",
          "transcript": "NM_001371169.1",
          "protein_id": "NP_001358098.1",
          "transcript_support_level": null,
          "aa_start": 1285,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": 3853,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": 4378,
          "cdna_end": null,
          "cdna_length": 6665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3841G>C",
          "hgvs_p": "p.Val1281Leu",
          "transcript": "NM_001371119.1",
          "protein_id": "NP_001358048.1",
          "transcript_support_level": null,
          "aa_start": 1281,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": 3841,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": 4223,
          "cdna_end": null,
          "cdna_length": 6510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3832G>C",
          "hgvs_p": "p.Val1278Leu",
          "transcript": "NM_001371124.1",
          "protein_id": "NP_001358053.1",
          "transcript_support_level": null,
          "aa_start": 1278,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3832,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 4214,
          "cdna_end": null,
          "cdna_length": 6501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3832G>C",
          "hgvs_p": "p.Val1278Leu",
          "transcript": "NM_001371126.1",
          "protein_id": "NP_001358055.1",
          "transcript_support_level": null,
          "aa_start": 1278,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3832,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 4511,
          "cdna_end": null,
          "cdna_length": 6798,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3832G>C",
          "hgvs_p": "p.Val1278Leu",
          "transcript": "NM_001371172.1",
          "protein_id": "NP_001358101.1",
          "transcript_support_level": null,
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          "aa_length": 1285,
          "cds_start": 3832,
          "cds_end": null,
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          "cdna_start": 4357,
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          "cdna_length": 6644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3796G>C",
          "hgvs_p": "p.Val1266Leu",
          "transcript": "NM_001371146.1",
          "protein_id": "NP_001358075.1",
          "transcript_support_level": null,
          "aa_start": 1266,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": 3796,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": 4321,
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          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3727G>C",
          "hgvs_p": "p.Val1243Leu",
          "transcript": "NM_001371138.1",
          "protein_id": "NP_001358067.1",
          "transcript_support_level": null,
          "aa_start": 1243,
          "aa_end": null,
          "aa_length": 1250,
          "cds_start": 3727,
          "cds_end": null,
          "cds_length": 3753,
          "cdna_start": 4252,
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          "cdna_length": 6539,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "protein_coding": true,
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          ],
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          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3706G>C",
          "hgvs_p": "p.Val1236Leu",
          "transcript": "NM_001371158.1",
          "protein_id": "NP_001358087.1",
          "transcript_support_level": null,
          "aa_start": 1236,
          "aa_end": null,
          "aa_length": 1243,
          "cds_start": 3706,
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          "cdna_start": 4231,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3679G>C",
          "hgvs_p": "p.Val1227Leu",
          "transcript": "NM_001371145.1",
          "protein_id": "NP_001358074.1",
          "transcript_support_level": null,
          "aa_start": 1227,
          "aa_end": null,
          "aa_length": 1234,
          "cds_start": 3679,
          "cds_end": null,
          "cds_length": 3705,
          "cdna_start": 4204,
          "cdna_end": null,
          "cdna_length": 6491,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3652G>C",
          "hgvs_p": "p.Val1218Leu",
          "transcript": "NM_001371136.1",
          "protein_id": "NP_001358065.1",
          "transcript_support_level": null,
          "aa_start": 1218,
          "aa_end": null,
          "aa_length": 1225,
          "cds_start": 3652,
          "cds_end": null,
          "cds_length": 3678,
          "cdna_start": 4177,
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          "cdna_length": 6464,
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          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3643G>C",
          "hgvs_p": "p.Val1215Leu",
          "transcript": "NM_001371140.1",
          "protein_id": "NP_001358069.1",
          "transcript_support_level": null,
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          "cds_start": 3643,
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          "cdna_start": 4168,
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          "cdna_length": 6455,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
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          "hgvs_p": "p.Val1207Leu",
          "transcript": "NM_001371123.1",
          "protein_id": "NP_001358052.1",
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          "aa_start": 1207,
          "aa_end": null,
          "aa_length": 1214,
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          "cds_length": 3645,
          "cdna_start": 4001,
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          "cdna_length": 6288,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3619G>C",
          "hgvs_p": "p.Val1207Leu",
          "transcript": "NM_001371149.1",
          "protein_id": "NP_001358078.1",
          "transcript_support_level": null,
          "aa_start": 1207,
          "aa_end": null,
          "aa_length": 1214,
          "cds_start": 3619,
          "cds_end": null,
          "cds_length": 3645,
          "cdna_start": 4144,
          "cdna_end": null,
          "cdna_length": 6431,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
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        {
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        {
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      ],
      "gene_symbol": "NRCAM",
      "gene_hgnc_id": 7994,
      "dbsnp": "rs372883632",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.2388170063495636,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.275,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1287,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.08,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 5,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000379028.8",
          "gene_symbol": "NRCAM",
          "hgnc_id": 7994,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3889G>C",
          "hgvs_p": "p.Val1297Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}