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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: 1-9721214-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=9721214&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 9721214,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000377346.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "NM_005026.5",
"protein_id": "NP_005017.3",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": "ENST00000377346.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "ENST00000377346.9",
"protein_id": "ENSP00000366563.4",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": "NM_005026.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1849G>C",
"hgvs_p": "p.Gly617Arg",
"transcript": "ENST00000361110.6",
"protein_id": "ENSP00000354410.2",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 1068,
"cds_start": 1849,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "NM_001437546.1",
"protein_id": "NP_001424475.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "ENST00000698712.1",
"protein_id": "ENSP00000513889.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "ENST00000698713.1",
"protein_id": "ENSP00000513890.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Gly592Arg",
"transcript": "NM_001350234.2",
"protein_id": "NP_001337163.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Gly592Arg",
"transcript": "NM_001439206.1",
"protein_id": "NP_001426135.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Gly592Arg",
"transcript": "ENST00000698710.1",
"protein_id": "ENSP00000513888.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 5184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Gly592Arg",
"transcript": "ENST00000698715.1",
"protein_id": "ENSP00000513892.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1774,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1765G>C",
"hgvs_p": "p.Gly589Arg",
"transcript": "ENST00000698716.1",
"protein_id": "ENSP00000513893.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1765,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1690G>C",
"hgvs_p": "p.Gly564Arg",
"transcript": "NM_001350235.1",
"protein_id": "NP_001337164.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1690,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "ENST00000698709.1",
"protein_id": "ENSP00000513887.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "NM_001437547.1",
"protein_id": "NP_001424476.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 996,
"cds_start": 1777,
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"cds_length": 2991,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "NM_001438338.1",
"protein_id": "NP_001425267.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 996,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "ENST00000698714.1",
"protein_id": "ENSP00000513891.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 996,
"cds_start": 1777,
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"cdna_start": 2083,
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"cdna_length": 5157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.451G>C",
"hgvs_p": "p.Gly151Arg",
"transcript": "ENST00000698789.1",
"protein_id": "ENSP00000513931.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 195,
"cds_start": 451,
"cds_end": null,
"cds_length": 589,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "XM_006710687.3",
"protein_id": "XP_006710750.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "XM_047422550.1",
"protein_id": "XP_047278506.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
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"cdna_start": 2595,
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"cdna_length": 6021,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "XM_047422551.1",
"protein_id": "XP_047278507.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
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"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "XM_047422552.1",
"protein_id": "XP_047278508.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
"cds_end": null,
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"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg",
"transcript": "XM_047422553.1",
"protein_id": "XP_047278509.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1777,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 5510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
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},
{
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},
{
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],
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}
],
"gene_symbol": "PIK3CD",
"gene_hgnc_id": 8977,
"dbsnp": "rs143068130",
"frequency_reference_population": 0.00024049457,
"hom_count_reference_population": 0,
"allele_count_reference_population": 388,
"gnomad_exomes_af": 0.000245013,
"gnomad_genomes_af": 0.000197112,
"gnomad_exomes_ac": 358,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05640745162963867,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.1795,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.228,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -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": "ENST00000377346.9",
"gene_symbol": "PIK3CD",
"hgnc_id": 8977,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Gly593Arg"
}
],
"clinvar_disease": " autosomal recessive,Activated PI3K-delta syndrome,Combined immunodeficiency with faciooculoskeletal anomalies,Immunodeficiency 14,Immunodeficiency 14b,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Immunodeficiency 14|Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14;Immunodeficiency 14b, autosomal recessive|Activated PI3K-delta syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}