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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: 7-100107375-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100107375&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 100107375,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001365004.1",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "NM_139315.3",
          "protein_id": "NP_647476.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000453269.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_139315.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000453269.7",
          "protein_id": "ENSP00000389575.2",
          "transcript_support_level": 1,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_139315.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000453269.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000344095.8",
          "protein_id": "ENSP00000344537.4",
          "transcript_support_level": 1,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000344095.8"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000452041.5",
          "protein_id": "ENSP00000416396.1",
          "transcript_support_level": 1,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000452041.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000472509.6",
          "protein_id": "ENSP00000419760.2",
          "transcript_support_level": 1,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000472509.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP4M1",
          "gene_hgnc_id": 574,
          "hgvs_c": "c.*493C>A",
          "hgvs_p": null,
          "transcript": "NM_004722.4",
          "protein_id": "NP_004713.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000359593.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004722.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "AP4M1",
          "gene_hgnc_id": 574,
          "hgvs_c": "c.*493C>A",
          "hgvs_p": null,
          "transcript": "ENST00000359593.9",
          "protein_id": "ENSP00000352603.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004722.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359593.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "AP4M1",
          "gene_hgnc_id": 574,
          "hgvs_c": "c.*30+463C>A",
          "hgvs_p": null,
          "transcript": "ENST00000421755.5",
          "protein_id": "ENSP00000412185.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000421755.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.2043G>T",
          "hgvs_p": "p.Pro681Pro",
          "transcript": "NM_001365004.1",
          "protein_id": "NP_001351933.1",
          "transcript_support_level": null,
          "aa_start": 681,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 2043,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001365004.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.2016G>T",
          "hgvs_p": "p.Pro672Pro",
          "transcript": "NM_001190415.2",
          "protein_id": "NP_001177344.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": 2016,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001190415.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.2016G>T",
          "hgvs_p": "p.Pro672Pro",
          "transcript": "ENST00000437822.6",
          "protein_id": "ENSP00000399982.2",
          "transcript_support_level": 2,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": 2016,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000437822.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "NM_001364998.1",
          "protein_id": "NP_001351927.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001364998.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "NM_001364999.1",
          "protein_id": "NP_001351928.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001364999.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "NM_005641.4",
          "protein_id": "NP_005632.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005641.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000460673.3",
          "protein_id": "ENSP00000427710.3",
          "transcript_support_level": 4,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000460673.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000685280.1",
          "protein_id": "ENSP00000510209.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685280.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000686580.1",
          "protein_id": "ENSP00000510270.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686580.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000686777.1",
          "protein_id": "ENSP00000510166.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686777.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000687137.1",
          "protein_id": "ENSP00000508432.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000687137.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF6",
          "gene_hgnc_id": 11540,
          "hgvs_c": "c.1905G>T",
          "hgvs_p": "p.Pro635Pro",
          "transcript": "ENST00000687410.1",
          "protein_id": "ENSP00000509158.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1905,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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        {
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          "hgvs_c": "n.*989C>A",
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          "transcript": "ENST00000713799.1",
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000713799.1"
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      ],
      "gene_symbol": "TAF6",
      "gene_hgnc_id": 11540,
      "dbsnp": "rs185657098",
      "frequency_reference_population": 6.965787e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.96579e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7300000190734863,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.73,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -3.023,
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001365004.1",
          "gene_symbol": "TAF6",
          "hgnc_id": 11540,
          "effects": [
            "synonymous_variant"
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          "inheritance_mode": "AR",
          "hgvs_c": "c.2043G>T",
          "hgvs_p": "p.Pro681Pro"
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001363671.2",
          "gene_symbol": "AP4M1",
          "hgnc_id": 574,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*493C>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}