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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: 15-90811222-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90811222&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90811222,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000057.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "NM_000057.4",
"protein_id": "NP_000048.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355112.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000057.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "ENST00000355112.8",
"protein_id": "ENSP00000347232.3",
"transcript_support_level": 1,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355112.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3499G>C",
"hgvs_p": "p.Gly1167Arg",
"transcript": "ENST00000560509.5",
"protein_id": "ENSP00000454158.1",
"transcript_support_level": 1,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3499,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560509.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*2816G>C",
"hgvs_p": null,
"transcript": "ENST00000559724.5",
"protein_id": "ENSP00000453359.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000559724.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*2816G>C",
"hgvs_p": null,
"transcript": "ENST00000559724.5",
"protein_id": "ENSP00000453359.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000559724.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3985G>C",
"hgvs_p": "p.Gly1329Arg",
"transcript": "ENST00000936452.1",
"protein_id": "ENSP00000606511.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936452.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3946G>C",
"hgvs_p": "p.Gly1316Arg",
"transcript": "ENST00000936450.1",
"protein_id": "ENSP00000606509.1",
"transcript_support_level": null,
"aa_start": 1316,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3946,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936450.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "NM_001287246.2",
"protein_id": "NP_001274175.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287246.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "ENST00000680772.1",
"protein_id": "ENSP00000506117.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680772.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "ENST00000936448.1",
"protein_id": "ENSP00000606507.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936448.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "ENST00000936451.1",
"protein_id": "ENSP00000606510.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936451.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "ENST00000936455.1",
"protein_id": "ENSP00000606514.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936455.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3889G>C",
"hgvs_p": "p.Gly1297Arg",
"transcript": "ENST00000936446.1",
"protein_id": "ENSP00000606505.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3889,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936446.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "ENST00000648453.1",
"protein_id": "ENSP00000497646.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648453.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3793G>C",
"hgvs_p": "p.Gly1265Arg",
"transcript": "ENST00000936454.1",
"protein_id": "ENSP00000606513.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3793,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936454.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3778G>C",
"hgvs_p": "p.Gly1260Arg",
"transcript": "ENST00000891949.1",
"protein_id": "ENSP00000562008.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3778,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891949.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3892G>C",
"hgvs_p": "p.Gly1298Arg",
"transcript": "ENST00000681142.1",
"protein_id": "ENSP00000506682.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3892,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681142.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3499G>C",
"hgvs_p": "p.Gly1167Arg",
"transcript": "NM_001287247.2",
"protein_id": "NP_001274176.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3499,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287247.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3304G>C",
"hgvs_p": "p.Gly1102Arg",
"transcript": "ENST00000936445.1",
"protein_id": "ENSP00000606504.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3304,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936445.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3235G>C",
"hgvs_p": "p.Gly1079Arg",
"transcript": "ENST00000936447.1",
"protein_id": "ENSP00000606506.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936447.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.2767G>C",
"hgvs_p": "p.Gly923Arg",
"transcript": "NM_001287248.2",
"protein_id": "NP_001274177.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287248.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.2317G>C",
"hgvs_p": "p.Gly773Arg",
"transcript": "ENST00000936453.1",
"protein_id": "ENSP00000606512.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 892,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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},
{
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{
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{
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},
{
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],
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"biotype": "pseudogene",
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}
],
"gene_symbol": "BLM",
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"dbsnp": "rs587779889",
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"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": 0.04492080211639404,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.008,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000057.4",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
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"hgvs_p": "p.Gly1298Arg"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}