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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: 1-201359242-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201359242&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201359242,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000656932.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.865G>C",
"hgvs_p": "p.Gly289Arg",
"transcript": "NM_001276345.2",
"protein_id": "NP_001263274.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 298,
"cds_start": 865,
"cds_end": null,
"cds_length": 897,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": "ENST00000656932.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.865G>C",
"hgvs_p": "p.Gly289Arg",
"transcript": "ENST00000656932.1",
"protein_id": "ENSP00000499593.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 298,
"cds_start": 865,
"cds_end": null,
"cds_length": 897,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": "NM_001276345.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Gly275Arg",
"transcript": "ENST00000367322.6",
"protein_id": "ENSP00000356291.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 284,
"cds_start": 823,
"cds_end": null,
"cds_length": 855,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.736G>C",
"hgvs_p": "p.Gly246Arg",
"transcript": "ENST00000367320.6",
"protein_id": "ENSP00000356289.2",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 255,
"cds_start": 736,
"cds_end": null,
"cds_length": 768,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.865G>C",
"hgvs_p": "p.Gly289Arg",
"transcript": "ENST00000714314.1",
"protein_id": "ENSP00000519590.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 298,
"cds_start": 865,
"cds_end": null,
"cds_length": 897,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Gly286Arg",
"transcript": "NM_000364.4",
"protein_id": "NP_000355.2",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 295,
"cds_start": 856,
"cds_end": null,
"cds_length": 888,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Gly286Arg",
"transcript": "NM_001406723.1",
"protein_id": "NP_001393652.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 295,
"cds_start": 856,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Gly286Arg",
"transcript": "ENST00000422165.6",
"protein_id": "ENSP00000395163.2",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 295,
"cds_start": 856,
"cds_end": null,
"cds_length": 888,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Gly284Arg",
"transcript": "ENST00000455702.7",
"protein_id": "ENSP00000402238.3",
"transcript_support_level": 5,
"aa_start": 284,
"aa_end": null,
"aa_length": 293,
"cds_start": 850,
"cds_end": null,
"cds_length": 882,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Gly279Arg",
"transcript": "NM_001001430.3",
"protein_id": "NP_001001430.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 288,
"cds_start": 835,
"cds_end": null,
"cds_length": 867,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Gly279Arg",
"transcript": "NM_001276347.2",
"protein_id": "NP_001263276.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 288,
"cds_start": 835,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Gly279Arg",
"transcript": "NM_001406724.1",
"protein_id": "NP_001393653.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 288,
"cds_start": 835,
"cds_end": null,
"cds_length": 867,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Gly279Arg",
"transcript": "ENST00000367318.10",
"protein_id": "ENSP00000356287.5",
"transcript_support_level": 5,
"aa_start": 279,
"aa_end": null,
"aa_length": 288,
"cds_start": 835,
"cds_end": null,
"cds_length": 867,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Gly279Arg",
"transcript": "ENST00000509001.5",
"protein_id": "ENSP00000422031.1",
"transcript_support_level": 5,
"aa_start": 279,
"aa_end": null,
"aa_length": 288,
"cds_start": 835,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Gly279Arg",
"transcript": "ENST00000660295.1",
"protein_id": "ENSP00000499418.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 288,
"cds_start": 835,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.832G>C",
"hgvs_p": "p.Gly278Arg",
"transcript": "NM_001406725.1",
"protein_id": "NP_001393654.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 287,
"cds_start": 832,
"cds_end": null,
"cds_length": 864,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.826G>C",
"hgvs_p": "p.Gly276Arg",
"transcript": "NM_001001431.3",
"protein_id": "NP_001001431.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 285,
"cds_start": 826,
"cds_end": null,
"cds_length": 858,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.826G>C",
"hgvs_p": "p.Gly276Arg",
"transcript": "NM_001406726.1",
"protein_id": "NP_001393655.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 285,
"cds_start": 826,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.826G>C",
"hgvs_p": "p.Gly276Arg",
"transcript": "NM_001406727.1",
"protein_id": "NP_001393656.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 285,
"cds_start": 826,
"cds_end": null,
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"cdna_start": 889,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.826G>C",
"hgvs_p": "p.Gly276Arg",
"transcript": "ENST00000412633.3",
"protein_id": "ENSP00000408731.2",
"transcript_support_level": 2,
"aa_start": 276,
"aa_end": null,
"aa_length": 285,
"cds_start": 826,
"cds_end": null,
"cds_length": 858,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Gly274Arg",
"transcript": "NM_001406728.1",
"protein_id": "NP_001393657.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 283,
"cds_start": 820,
"cds_end": null,
"cds_length": 852,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Gly273Arg",
"transcript": "NM_001001432.3",
"protein_id": "NP_001001432.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 282,
"cds_start": 817,
"cds_end": null,
"cds_length": 849,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Gly272Arg",
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},
{
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},
{
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},
{
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}
],
"gene_symbol": "TNNT2",
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"dbsnp": "rs757664792",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06129411980509758,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.476,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9683,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.338,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000656932.1",
"gene_symbol": "TNNT2",
"hgnc_id": 11949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.865G>C",
"hgvs_p": "p.Gly289Arg"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000671234.1",
"gene_symbol": "ENSG00000286600",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.972G>C",
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}
],
"clinvar_disease": " 3, familial restrictive,Cardiomyopathy,Dilated cardiomyopathy 1D,Hypertrophic cardiomyopathy 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}