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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: 3-17161013-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=17161013&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 17161013,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001134381.2",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "NM_001349074.2",
          "protein_id": "NP_001336003.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000696125.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349074.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "ENST00000696125.1",
          "protein_id": "ENSP00000512418.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001349074.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696125.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "ENST00000446818.6",
          "protein_id": "ENSP00000402935.2",
          "transcript_support_level": 1,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000446818.6"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2338G>A",
          "hgvs_p": "p.Asp780Asn",
          "transcript": "ENST00000253692.11",
          "protein_id": "ENSP00000253692.6",
          "transcript_support_level": 1,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 2338,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000253692.11"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2338G>A",
          "hgvs_p": "p.Asp780Asn",
          "transcript": "ENST00000429383.8",
          "protein_id": "ENSP00000398127.4",
          "transcript_support_level": 1,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 2338,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000429383.8"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "NM_001134381.2",
          "protein_id": "NP_001127853.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001134381.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "NM_001349073.2",
          "protein_id": "NP_001336002.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349073.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "NM_001349075.2",
          "protein_id": "NP_001336004.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349075.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "ENST00000907031.1",
          "protein_id": "ENSP00000577090.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907031.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "ENST00000907038.1",
          "protein_id": "ENSP00000577097.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907038.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "ENST00000907046.1",
          "protein_id": "ENSP00000577105.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907046.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "ENST00000907048.1",
          "protein_id": "ENSP00000577107.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907048.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "ENST00000965798.1",
          "protein_id": "ENSP00000635857.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 2454,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965798.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Asp802Asn",
          "transcript": "ENST00000965814.1",
          "protein_id": "ENSP00000635873.1",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 817,
          "cds_start": 2404,
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          "cds_length": 2454,
          "cdna_start": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965814.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2401G>A",
          "hgvs_p": "p.Asp801Asn",
          "transcript": "ENST00000907047.1",
          "protein_id": "ENSP00000577106.1",
          "transcript_support_level": null,
          "aa_start": 801,
          "aa_end": null,
          "aa_length": 816,
          "cds_start": 2401,
          "cds_end": null,
          "cds_length": 2451,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907047.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2359G>A",
          "hgvs_p": "p.Asp787Asn",
          "transcript": "NM_001349081.2",
          "protein_id": "NP_001336010.1",
          "transcript_support_level": null,
          "aa_start": 787,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": 2359,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349081.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2338G>A",
          "hgvs_p": "p.Asp780Asn",
          "transcript": "NM_001349076.2",
          "protein_id": "NP_001336005.1",
          "transcript_support_level": null,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 2338,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349076.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2338G>A",
          "hgvs_p": "p.Asp780Asn",
          "transcript": "NM_001349077.2",
          "protein_id": "NP_001336006.1",
          "transcript_support_level": null,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 2338,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001349077.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2338G>A",
          "hgvs_p": "p.Asp780Asn",
          "transcript": "NM_001349078.2",
          "protein_id": "NP_001336007.1",
          "transcript_support_level": null,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 2338,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001349078.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TBC1D5",
          "gene_hgnc_id": 19166,
          "hgvs_c": "c.2338G>A",
          "hgvs_p": "p.Asp780Asn",
          "transcript": "NM_001349079.2",
          "protein_id": "NP_001336008.1",
          "transcript_support_level": null,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 795,
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      ],
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      "dbsnp": "rs758051645",
      "frequency_reference_population": 0.000051423503,
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      "allele_count_reference_population": 83,
      "gnomad_exomes_af": 0.0000533567,
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      "gnomad_exomes_ac": 78,
      "gnomad_genomes_ac": 5,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0483802855014801,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.084,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.117,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.65,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.887,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
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      "mitotip_prediction": null,
      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001134381.2",
          "gene_symbol": "TBC1D5",
          "hgnc_id": 19166,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2404G>A",
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        },
        {
          "score": -4,
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          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000649558.2",
          "gene_symbol": "ENSG00000285731",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.863+5521C>T",
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        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}