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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: 19-49808720-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49808720&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49808720,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001352262.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Leu297His",
"transcript": "NM_025129.5",
"protein_id": "NP_079405.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 890,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313777.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025129.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Leu297His",
"transcript": "ENST00000313777.9",
"protein_id": "ENSP00000313309.4",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 890,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025129.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313777.9"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.971T>A",
"hgvs_p": "p.Leu324His",
"transcript": "ENST00000881282.1",
"protein_id": "ENSP00000551341.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 445,
"cds_start": 971,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881282.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Leu297His",
"transcript": "ENST00000881283.1",
"protein_id": "ENSP00000551342.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 425,
"cds_start": 890,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881283.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Leu297His",
"transcript": "NM_001352262.2",
"protein_id": "NP_001339191.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 419,
"cds_start": 890,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352262.2"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Leu297His",
"transcript": "ENST00000881280.1",
"protein_id": "ENSP00000551339.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 419,
"cds_start": 890,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881280.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Leu297His",
"transcript": "ENST00000939146.1",
"protein_id": "ENSP00000609205.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 416,
"cds_start": 890,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939146.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.794T>A",
"hgvs_p": "p.Leu265His",
"transcript": "ENST00000881281.1",
"protein_id": "ENSP00000551340.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 386,
"cds_start": 794,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881281.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.782T>A",
"hgvs_p": "p.Leu261His",
"transcript": "ENST00000939148.1",
"protein_id": "ENSP00000609207.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 383,
"cds_start": 782,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939148.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.782T>A",
"hgvs_p": "p.Leu261His",
"transcript": "NM_001171937.2",
"protein_id": "NP_001165408.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 382,
"cds_start": 782,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171937.2"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.782T>A",
"hgvs_p": "p.Leu261His",
"transcript": "ENST00000528094.5",
"protein_id": "ENSP00000435177.1",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 382,
"cds_start": 782,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528094.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.779T>A",
"hgvs_p": "p.Leu260His",
"transcript": "ENST00000956086.1",
"protein_id": "ENSP00000626145.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 381,
"cds_start": 779,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956086.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.740T>A",
"hgvs_p": "p.Leu247His",
"transcript": "NM_001363663.1",
"protein_id": "NP_001350592.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 368,
"cds_start": 740,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363663.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.740T>A",
"hgvs_p": "p.Leu247His",
"transcript": "ENST00000533418.5",
"protein_id": "ENSP00000431731.1",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 368,
"cds_start": 740,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533418.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.692T>A",
"hgvs_p": "p.Leu231His",
"transcript": "ENST00000939147.1",
"protein_id": "ENSP00000609206.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 353,
"cds_start": 692,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939147.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.692T>A",
"hgvs_p": "p.Leu231His",
"transcript": "ENST00000881284.1",
"protein_id": "ENSP00000551343.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 352,
"cds_start": 692,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881284.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.683T>A",
"hgvs_p": "p.Leu228His",
"transcript": "ENST00000956087.1",
"protein_id": "ENSP00000626146.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 350,
"cds_start": 683,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956087.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.683T>A",
"hgvs_p": "p.Leu228His",
"transcript": "ENST00000939144.1",
"protein_id": "ENSP00000609203.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 349,
"cds_start": 683,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939144.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.671T>A",
"hgvs_p": "p.Leu224His",
"transcript": "ENST00000939145.1",
"protein_id": "ENSP00000609204.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 345,
"cds_start": 671,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939145.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.584T>A",
"hgvs_p": "p.Leu195His",
"transcript": "ENST00000939143.1",
"protein_id": "ENSP00000609202.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 316,
"cds_start": 584,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939143.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.485T>A",
"hgvs_p": "p.Leu162His",
"transcript": "ENST00000939149.1",
"protein_id": "ENSP00000609208.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 283,
"cds_start": 485,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939149.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.740T>A",
"hgvs_p": "p.Leu247His",
"transcript": "XM_011527340.2",
"protein_id": "XP_011525642.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 369,
"cds_start": 740,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"intron_rank_end": null,
"gene_symbol": "LOC105372435",
"gene_hgnc_id": null,
"hgvs_c": "n.-200A>T",
"hgvs_p": null,
"transcript": "NR_187900.1",
"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": "NR_187900.1"
}
],
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"dbsnp": "rs201371956",
"frequency_reference_population": 0.0000081600065,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000763417,
"gnomad_genomes_af": 0.0000131366,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6020966172218323,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.443,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2192,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.29,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001352262.2",
"gene_symbol": "FUZ",
"hgnc_id": 26219,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Leu297His"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000600669.2",
"gene_symbol": "ENSG00000269194",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-181A>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NR_187900.1",
"gene_symbol": "LOC105372435",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-200A>T",
"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
}