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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: 2-151485793-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151485793&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151485793,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000397345.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 182,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25544delG",
"hgvs_p": "p.Gly8515fs",
"transcript": "NM_001164507.2",
"protein_id": "NP_001157979.2",
"transcript_support_level": null,
"aa_start": 8515,
"aa_end": null,
"aa_length": 8525,
"cds_start": 25544,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 25736,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "ENST00000427231.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 182,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25544delG",
"hgvs_p": "p.Gly8515fs",
"transcript": "NM_001164508.2",
"protein_id": "NP_001157980.2",
"transcript_support_level": null,
"aa_start": 8515,
"aa_end": null,
"aa_length": 8525,
"cds_start": 25544,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 25736,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "ENST00000397345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 182,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25544delG",
"hgvs_p": "p.Gly8515fs",
"transcript": "ENST00000397345.8",
"protein_id": "ENSP00000380505.3",
"transcript_support_level": 5,
"aa_start": 8515,
"aa_end": null,
"aa_length": 8525,
"cds_start": 25544,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 25736,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": "NM_001164508.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 182,
"exon_rank_end": null,
"exon_count": 182,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25544delG",
"hgvs_p": "p.Gly8515fs",
"transcript": "ENST00000427231.7",
"protein_id": "ENSP00000416578.2",
"transcript_support_level": 5,
"aa_start": 8515,
"aa_end": null,
"aa_length": 8525,
"cds_start": 25544,
"cds_end": null,
"cds_length": 25578,
"cdna_start": 25736,
"cdna_end": null,
"cdna_length": 26191,
"mane_select": null,
"mane_plus": "NM_001164507.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 183,
"exon_rank_end": null,
"exon_count": 183,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25649delG",
"hgvs_p": "p.Gly8550fs",
"transcript": "NM_001271208.2",
"protein_id": "NP_001258137.2",
"transcript_support_level": null,
"aa_start": 8550,
"aa_end": null,
"aa_length": 8560,
"cds_start": 25649,
"cds_end": null,
"cds_length": 25683,
"cdna_start": 25841,
"cdna_end": null,
"cdna_length": 26296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 150,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.19976delG",
"hgvs_p": "p.Gly6659fs",
"transcript": "NM_004543.5",
"protein_id": "NP_004534.3",
"transcript_support_level": null,
"aa_start": 6659,
"aa_end": null,
"aa_length": 6669,
"cds_start": 19976,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 20168,
"cdna_end": null,
"cdna_length": 20623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 150,
"exon_rank_end": null,
"exon_count": 150,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.19976delG",
"hgvs_p": "p.Gly6659fs",
"transcript": "ENST00000409198.5",
"protein_id": "ENSP00000386259.1",
"transcript_support_level": 5,
"aa_start": 6659,
"aa_end": null,
"aa_length": 6669,
"cds_start": 19976,
"cds_end": null,
"cds_length": 20010,
"cdna_start": 20179,
"cdna_end": null,
"cdna_length": 20637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.8990delG",
"hgvs_p": "p.Gly2997fs",
"transcript": "ENST00000413693.5",
"protein_id": "ENSP00000410961.1",
"transcript_support_level": 5,
"aa_start": 2997,
"aa_end": null,
"aa_length": 3007,
"cds_start": 8990,
"cds_end": null,
"cds_length": 9024,
"cdna_start": 8990,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.7247delG",
"hgvs_p": "p.Gly2416fs",
"transcript": "ENST00000690043.1",
"protein_id": "ENSP00000509961.1",
"transcript_support_level": null,
"aa_start": 2416,
"aa_end": null,
"aa_length": 2426,
"cds_start": 7247,
"cds_end": null,
"cds_length": 7281,
"cdna_start": 7249,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.3851delG",
"hgvs_p": "p.Gly1284fs",
"transcript": "ENST00000434685.6",
"protein_id": "ENSP00000389074.2",
"transcript_support_level": 5,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3851,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3853,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.2141delG",
"hgvs_p": "p.Gly714fs",
"transcript": "ENST00000688578.1",
"protein_id": "ENSP00000509628.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 724,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.1943delG",
"hgvs_p": "p.Gly648fs",
"transcript": "ENST00000397337.6",
"protein_id": "ENSP00000380498.2",
"transcript_support_level": 5,
"aa_start": 648,
"aa_end": null,
"aa_length": 658,
"cds_start": 1943,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25451delG",
"hgvs_p": "p.Gly8484fs",
"transcript": "XM_005246590.3",
"protein_id": "XP_005246647.1",
"transcript_support_level": null,
"aa_start": 8484,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25451,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 25643,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25451delG",
"hgvs_p": "p.Gly8484fs",
"transcript": "XM_005246591.3",
"protein_id": "XP_005246648.1",
"transcript_support_level": null,
"aa_start": 8484,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25451,
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"cdna_start": 25643,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25451delG",
"hgvs_p": "p.Gly8484fs",
"transcript": "XM_005246592.3",
"protein_id": "XP_005246649.1",
"transcript_support_level": null,
"aa_start": 8484,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25451,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 25643,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25451delG",
"hgvs_p": "p.Gly8484fs",
"transcript": "XM_005246593.3",
"protein_id": "XP_005246650.1",
"transcript_support_level": null,
"aa_start": 8484,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25451,
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"cdna_start": 25643,
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"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25451delG",
"hgvs_p": "p.Gly8484fs",
"transcript": "XM_005246594.3",
"protein_id": "XP_005246651.1",
"transcript_support_level": null,
"aa_start": 8484,
"aa_end": null,
"aa_length": 8494,
"cds_start": 25451,
"cds_end": null,
"cds_length": 25485,
"cdna_start": 25643,
"cdna_end": null,
"cdna_length": 26098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 181,
"exon_rank_end": null,
"exon_count": 181,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25433delG",
"hgvs_p": "p.Gly8478fs",
"transcript": "XM_017004177.2",
"protein_id": "XP_016859666.1",
"transcript_support_level": null,
"aa_start": 8478,
"aa_end": null,
"aa_length": 8488,
"cds_start": 25433,
"cds_end": null,
"cds_length": 25467,
"cdna_start": 25625,
"cdna_end": null,
"cdna_length": 26080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25358delG",
"hgvs_p": "p.Gly8453fs",
"transcript": "XM_005246596.3",
"protein_id": "XP_005246653.1",
"transcript_support_level": null,
"aa_start": 8453,
"aa_end": null,
"aa_length": 8463,
"cds_start": 25358,
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"cdna_start": 25550,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25358delG",
"hgvs_p": "p.Gly8453fs",
"transcript": "XM_005246597.3",
"protein_id": "XP_005246654.1",
"transcript_support_level": null,
"aa_start": 8453,
"aa_end": null,
"aa_length": 8463,
"cds_start": 25358,
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"cds_length": 25392,
"cdna_start": 25550,
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"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25358delG",
"hgvs_p": "p.Gly8453fs",
"transcript": "XM_005246598.3",
"protein_id": "XP_005246655.1",
"transcript_support_level": null,
"aa_start": 8453,
"aa_end": null,
"aa_length": 8463,
"cds_start": 25358,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 25550,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25358delG",
"hgvs_p": "p.Gly8453fs",
"transcript": "XM_017004178.2",
"protein_id": "XP_016859667.1",
"transcript_support_level": null,
"aa_start": 8453,
"aa_end": null,
"aa_length": 8463,
"cds_start": 25358,
"cds_end": null,
"cds_length": 25392,
"cdna_start": 25550,
"cdna_end": null,
"cdna_length": 26005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 180,
"exon_rank_end": null,
"exon_count": 180,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEB",
"gene_hgnc_id": 7720,
"hgvs_c": "c.25340delG",
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}
],
"gene_symbol": "NEB",
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"dbsnp": "rs1205824305",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.846e-7,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 1,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397345.8",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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},
{
"score": 2,
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000454583.6",
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Nemaline myopathy 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Nemaline myopathy 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}