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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: 8-58595582-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=58595582&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 58595582,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001144772.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1870G>C",
"hgvs_p": "p.Glu624Gln",
"transcript": "NM_003580.4",
"protein_id": "NP_003571.2",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 917,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000038176.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003580.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1870G>C",
"hgvs_p": "p.Glu624Gln",
"transcript": "ENST00000038176.8",
"protein_id": "ENSP00000038176.3",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 917,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003580.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000038176.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Glu655Gln",
"transcript": "NM_001144772.1",
"protein_id": "NP_001138244.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 948,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144772.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Glu655Gln",
"transcript": "ENST00000427130.7",
"protein_id": "ENSP00000411012.2",
"transcript_support_level": 2,
"aa_start": 655,
"aa_end": null,
"aa_length": 948,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427130.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1939G>C",
"hgvs_p": "p.Glu647Gln",
"transcript": "NM_001413006.1",
"protein_id": "NP_001399935.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 940,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413006.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Glu631Gln",
"transcript": "ENST00000958102.1",
"protein_id": "ENSP00000628161.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 927,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958102.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Glu632Gln",
"transcript": "NM_001412998.1",
"protein_id": "NP_001399927.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 925,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412998.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Glu632Gln",
"transcript": "ENST00000958106.1",
"protein_id": "ENSP00000628165.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 925,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958106.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Glu631Gln",
"transcript": "NM_001412994.1",
"protein_id": "NP_001399923.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 924,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412994.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Glu631Gln",
"transcript": "NM_001413005.1",
"protein_id": "NP_001399934.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 924,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413005.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Glu631Gln",
"transcript": "ENST00000870783.1",
"protein_id": "ENSP00000540842.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 924,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870783.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Glu631Gln",
"transcript": "ENST00000958105.1",
"protein_id": "ENSP00000628164.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 924,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958105.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1888G>C",
"hgvs_p": "p.Glu630Gln",
"transcript": "NM_001412990.1",
"protein_id": "NP_001399919.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 923,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412990.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1888G>C",
"hgvs_p": "p.Glu630Gln",
"transcript": "ENST00000958101.1",
"protein_id": "ENSP00000628160.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 923,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958101.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1870G>C",
"hgvs_p": "p.Glu624Gln",
"transcript": "NM_001412992.1",
"protein_id": "NP_001399921.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 920,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412992.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1870G>C",
"hgvs_p": "p.Glu624Gln",
"transcript": "ENST00000870782.1",
"protein_id": "ENSP00000540841.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 920,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870782.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1870G>C",
"hgvs_p": "p.Glu624Gln",
"transcript": "ENST00000958104.1",
"protein_id": "ENSP00000628163.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 918,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958104.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1867G>C",
"hgvs_p": "p.Glu623Gln",
"transcript": "ENST00000958103.1",
"protein_id": "ENSP00000628162.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 916,
"cds_start": 1867,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958103.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1804G>C",
"hgvs_p": "p.Glu602Gln",
"transcript": "ENST00000870784.1",
"protein_id": "ENSP00000540843.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 895,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870784.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1870G>C",
"hgvs_p": "p.Glu624Gln",
"transcript": "NM_001412995.1",
"protein_id": "NP_001399924.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 894,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412995.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1870G>C",
"hgvs_p": "p.Glu624Gln",
"transcript": "NM_001413002.1",
"protein_id": "NP_001399931.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 854,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413002.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.1870G>C",
"hgvs_p": "p.Glu624Gln",
"transcript": "NM_001412989.1",
"protein_id": "NP_001399918.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 821,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295184",
"gene_hgnc_id": null,
"hgvs_c": "n.*223C>G",
"hgvs_p": null,
"transcript": "ENST00000728510.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000728510.1"
}
],
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"dbsnp": "rs781440282",
"frequency_reference_population": 0.00004834577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 78,
"gnomad_exomes_af": 0.000042431,
"gnomad_genomes_af": 0.000105137,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09010669589042664,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.0909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.096,
"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": 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": "NM_001144772.1",
"gene_symbol": "NSMAF",
"hgnc_id": 8017,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1963G>C",
"hgvs_p": "p.Glu655Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000728510.1",
"gene_symbol": "ENSG00000295184",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*223C>G",
"hgvs_p": null
}
],
"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
}