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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: 17-81934326-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81934326&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81934326,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000329875.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "NM_006907.4",
"protein_id": "NP_008838.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 319,
"cds_start": 797,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": "ENST00000329875.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "ENST00000329875.13",
"protein_id": "ENSP00000328858.8",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 319,
"cds_start": 797,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": "NM_006907.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "ENST00000619204.4",
"protein_id": "ENSP00000479793.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 319,
"cds_start": 797,
"cds_end": null,
"cds_length": 960,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "ENST00000337943.9",
"protein_id": "ENSP00000336579.5",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 316,
"cds_start": 797,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.704G>T",
"hgvs_p": "p.Arg235Leu",
"transcript": "ENST00000403172.8",
"protein_id": "ENSP00000385483.4",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 288,
"cds_start": 704,
"cds_end": null,
"cds_length": 867,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.878G>T",
"hgvs_p": "p.Arg293Leu",
"transcript": "NM_001282281.2",
"protein_id": "NP_001269210.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 346,
"cds_start": 878,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.878G>T",
"hgvs_p": "p.Arg293Leu",
"transcript": "ENST00000402252.6",
"protein_id": "ENSP00000384949.2",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 346,
"cds_start": 878,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "NM_001282280.2",
"protein_id": "NP_001269209.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 319,
"cds_start": 797,
"cds_end": null,
"cds_length": 960,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "NM_153824.3",
"protein_id": "NP_722546.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 316,
"cds_start": 797,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.704G>T",
"hgvs_p": "p.Arg235Leu",
"transcript": "NM_001282279.2",
"protein_id": "NP_001269208.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 288,
"cds_start": 704,
"cds_end": null,
"cds_length": 867,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.707G>T",
"hgvs_p": "p.Arg236Leu",
"transcript": "ENST00000582198.5",
"protein_id": "ENSP00000463226.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 241,
"cds_start": 707,
"cds_end": null,
"cds_length": 728,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "XM_005256381.3",
"protein_id": "XP_005256438.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 319,
"cds_start": 797,
"cds_end": null,
"cds_length": 960,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "XM_011523583.3",
"protein_id": "XP_011521885.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 319,
"cds_start": 797,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "XM_011523584.4",
"protein_id": "XP_011521886.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 319,
"cds_start": 797,
"cds_end": null,
"cds_length": 960,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu",
"transcript": "XM_024450849.2",
"protein_id": "XP_024306617.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 319,
"cds_start": 797,
"cds_end": null,
"cds_length": 960,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.633+327G>T",
"hgvs_p": null,
"transcript": "NM_001330523.2",
"protein_id": "NP_001317452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.633+327G>T",
"hgvs_p": null,
"transcript": "ENST00000577756.5",
"protein_id": "ENSP00000463352.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.633+327G>T",
"hgvs_p": null,
"transcript": "ENST00000629768.2",
"protein_id": "ENSP00000485679.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.501+600G>T",
"hgvs_p": null,
"transcript": "ENST00000584848.5",
"protein_id": "ENSP00000463342.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.714+327G>T",
"hgvs_p": null,
"transcript": "XM_011523585.3",
"protein_id": "XP_011521887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.633+327G>T",
"hgvs_p": null,
"transcript": "XM_047436497.1",
"protein_id": "XP_047292453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.633+327G>T",
"hgvs_p": null,
"transcript": "XM_047436498.1",
"protein_id": "XP_047292454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
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{
"aa_ref": null,
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}
],
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5588520765304565,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9959999918937683,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.585,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3445,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.671,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.77,
"spliceai_max_prediction": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
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"criteria": [
"PM2",
"PM5",
"PP3_Strong"
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"verdict": "Likely_pathogenic",
"transcript": "ENST00000329875.13",
"gene_symbol": "PYCR1",
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"effects": [
"missense_variant",
"splice_region_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.797G>T",
"hgvs_p": "p.Arg266Leu"
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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
}