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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: 1-196743496-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196743496&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196743496,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000186.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3178G>C",
"hgvs_p": "p.Val1060Leu",
"transcript": "NM_000186.4",
"protein_id": "NP_000177.2",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367429.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000186.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3178G>C",
"hgvs_p": "p.Val1060Leu",
"transcript": "ENST00000367429.9",
"protein_id": "ENSP00000356399.4",
"transcript_support_level": 1,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000186.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367429.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289697",
"gene_hgnc_id": null,
"hgvs_c": "c.3178G>C",
"hgvs_p": "p.Val1060Leu",
"transcript": "ENST00000696032.1",
"protein_id": "ENSP00000512341.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3178,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "n.6276G>C",
"hgvs_p": null,
"transcript": "ENST00000466229.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000466229.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3172G>C",
"hgvs_p": "p.Val1058Leu",
"transcript": "ENST00000696027.1",
"protein_id": "ENSP00000512336.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3172,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696027.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3172G>C",
"hgvs_p": "p.Val1058Leu",
"transcript": "ENST00000696029.1",
"protein_id": "ENSP00000512338.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3172,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696029.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3157G>C",
"hgvs_p": "p.Val1053Leu",
"transcript": "ENST00000695971.1",
"protein_id": "ENSP00000512298.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695971.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3157G>C",
"hgvs_p": "p.Val1053Leu",
"transcript": "ENST00000883403.1",
"protein_id": "ENSP00000553462.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883403.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3151G>C",
"hgvs_p": "p.Val1051Leu",
"transcript": "ENST00000883411.1",
"protein_id": "ENSP00000553470.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883411.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3178G>C",
"hgvs_p": "p.Val1060Leu",
"transcript": "ENST00000883397.1",
"protein_id": "ENSP00000553456.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883397.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3106G>C",
"hgvs_p": "p.Val1036Leu",
"transcript": "ENST00000696028.1",
"protein_id": "ENSP00000512337.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3106,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696028.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3178G>C",
"hgvs_p": "p.Val1060Leu",
"transcript": "ENST00000695981.1",
"protein_id": "ENSP00000512306.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695981.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3064G>C",
"hgvs_p": "p.Val1022Leu",
"transcript": "ENST00000955310.1",
"protein_id": "ENSP00000625368.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955310.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3004G>C",
"hgvs_p": "p.Val1002Leu",
"transcript": "ENST00000695970.1",
"protein_id": "ENSP00000512297.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695970.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Val1001Leu",
"transcript": "ENST00000695974.1",
"protein_id": "ENSP00000512301.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695974.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.2995G>C",
"hgvs_p": "p.Val999Leu",
"transcript": "ENST00000883399.1",
"protein_id": "ENSP00000553458.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883399.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3178G>C",
"hgvs_p": "p.Val1060Leu",
"transcript": "ENST00000883412.1",
"protein_id": "ENSP00000553471.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3178,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883412.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.2989G>C",
"hgvs_p": "p.Val997Leu",
"transcript": "ENST00000695976.1",
"protein_id": "ENSP00000512303.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2989,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695976.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.2983G>C",
"hgvs_p": "p.Val995Leu",
"transcript": "ENST00000955307.1",
"protein_id": "ENSP00000625366.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955307.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.2827G>C",
"hgvs_p": "p.Val943Leu",
"transcript": "ENST00000883414.1",
"protein_id": "ENSP00000553473.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883414.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.2818G>C",
"hgvs_p": "p.Val940Leu",
"transcript": "ENST00000883407.1",
"protein_id": "ENSP00000553466.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883407.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.2638G>C",
"hgvs_p": "p.Val880Leu",
"transcript": "ENST00000955308.1",
"protein_id": "ENSP00000625367.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2638,
"cds_end": null,
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],
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"dbsnp": "rs55771831",
"frequency_reference_population": 0.0003816827,
"hom_count_reference_population": 6,
"allele_count_reference_population": 616,
"gnomad_exomes_af": 0.000376292,
"gnomad_genomes_af": 0.000433429,
"gnomad_exomes_ac": 550,
"gnomad_genomes_ac": 66,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00791710615158081,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.114,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.686,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000186.4",
"gene_symbol": "CFH",
"hgnc_id": 4883,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown,SD",
"hgvs_c": "c.3178G>C",
"hgvs_p": "p.Val1060Leu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000696032.1",
"gene_symbol": "ENSG00000289697",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3178G>C",
"hgvs_p": "p.Val1060Leu"
}
],
"clinvar_disease": " 1, atypical, susceptibility to,Age related macular degeneration 4,Basal laminar drusen,CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II,Factor H deficiency,Hemolytic uremic syndrome,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:10 B:1",
"phenotype_combined": "CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II|Hemolytic uremic syndrome, atypical, susceptibility to, 1|Basal laminar drusen|Age related macular degeneration 4|Factor H deficiency|not provided|Age related macular degeneration 4;Basal laminar drusen;Hemolytic uremic syndrome, atypical, susceptibility to, 1;Factor H deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}