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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: 11-64804758-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64804758&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64804758,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000450708.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1409C>G",
"hgvs_p": "p.Pro470Arg",
"transcript": "NM_001370259.2",
"protein_id": "NP_001357188.2",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 610,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "ENST00000450708.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1409C>G",
"hgvs_p": "p.Pro470Arg",
"transcript": "ENST00000450708.7",
"protein_id": "ENSP00000394933.3",
"transcript_support_level": 5,
"aa_start": 470,
"aa_end": null,
"aa_length": 610,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "NM_001370259.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1409C>G",
"hgvs_p": "p.Pro470Arg",
"transcript": "ENST00000312049.11",
"protein_id": "ENSP00000308975.6",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 610,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1409C>G",
"hgvs_p": "p.Pro470Arg",
"transcript": "ENST00000424912.2",
"protein_id": "ENSP00000388016.2",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 610,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1409C>G",
"hgvs_p": "p.Pro470Arg",
"transcript": "ENST00000429702.6",
"protein_id": "ENSP00000402752.2",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 610,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1304C>G",
"hgvs_p": "p.Pro435Arg",
"transcript": "ENST00000377321.5",
"protein_id": "ENSP00000366538.1",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 575,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1550C>G",
"hgvs_p": "p.Pro517Arg",
"transcript": "NM_001407150.1",
"protein_id": "NP_001394079.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 657,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Pro512Arg",
"transcript": "NM_001370251.2",
"protein_id": "NP_001357180.2",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 652,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Pro512Arg",
"transcript": "NM_001407142.1",
"protein_id": "NP_001394071.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 652,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Pro512Arg",
"transcript": "NM_001407143.1",
"protein_id": "NP_001394072.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 652,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Pro512Arg",
"transcript": "NM_001407144.1",
"protein_id": "NP_001394073.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 652,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Pro512Arg",
"transcript": "ENST00000672304.1",
"protein_id": "ENSP00000500585.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 652,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Pro477Arg",
"transcript": "NM_001407151.1",
"protein_id": "NP_001394080.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 617,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "NM_000244.4",
"protein_id": "NP_000235.3",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
"cds_end": null,
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"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "NM_001407145.1",
"protein_id": "NP_001394074.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "NM_130800.3",
"protein_id": "NP_570712.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
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"cdna_start": 1485,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "NM_130801.3",
"protein_id": "NP_570713.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
"cds_end": null,
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"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "NM_130802.3",
"protein_id": "NP_570714.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "NM_130803.3",
"protein_id": "NP_570715.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
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"cdna_start": 1928,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "NM_130804.3",
"protein_id": "NP_570716.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "ENST00000377313.7",
"protein_id": "ENSP00000366530.1",
"transcript_support_level": 2,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
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"cdna_start": 1731,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1424C>G",
"hgvs_p": "p.Pro475Arg",
"transcript": "ENST00000710881.1",
"protein_id": "ENSP00000518530.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 615,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1409C>G",
"hgvs_p": "p.Pro470Arg",
"transcript": "NM_001370260.2",
"protein_id": "NP_001357189.2",
"transcript_support_level": null,
"aa_start": 470,
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{
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}
],
"gene_symbol": "MEN1",
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"dbsnp": "rs750112288",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28063246607780457,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.397,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1762,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.623,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
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"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Pro470Arg"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}