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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: 20-46725728-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46725728&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC2A10",
"hgnc_id": 13444,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"inheritance_mode": "AR",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_030777.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 21,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.4083,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "20",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Arterial tortuosity syndrome,Cardiovascular phenotype",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9750892519950867,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1626,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_030777.4",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359271.4",
"protein_coding": true,
"protein_id": "NP_110404.1",
"strand": true,
"transcript": "NM_030777.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1626,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000359271.4",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030777.4",
"protein_coding": true,
"protein_id": "ENSP00000352216.2",
"strand": true,
"transcript": "ENST00000359271.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 639,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1920,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862794.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532853.1",
"strand": true,
"transcript": "ENST00000862794.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 585,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4338,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1758,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862792.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532851.1",
"strand": true,
"transcript": "ENST00000862792.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 578,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1737,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862793.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532852.1",
"strand": true,
"transcript": "ENST00000862793.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 566,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1701,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936502.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606561.1",
"strand": true,
"transcript": "ENST00000936502.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1698,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964823.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634882.1",
"strand": true,
"transcript": "ENST00000964823.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3348,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1668,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862795.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532854.1",
"strand": true,
"transcript": "ENST00000862795.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 551,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1656,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936505.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606564.1",
"strand": true,
"transcript": "ENST00000936505.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1539,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936503.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606562.1",
"strand": true,
"transcript": "ENST00000936503.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1503,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936507.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606566.1",
"strand": true,
"transcript": "ENST00000936507.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 353,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 186,
"cds_end": null,
"cds_length": 1062,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936504.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606563.1",
"strand": true,
"transcript": "ENST00000936504.1",
"transcript_support_level": null
},
{
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"aa_length": 562,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4369,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1689,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011529060.3",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527362.1",
"strand": true,
"transcript": "XM_011529060.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9109,
"cdna_start": 5662,
"cds_end": null,
"cds_length": 1635,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011529061.3",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Arg234Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527363.1",
"strand": true,
"transcript": "XM_011529061.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 535,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1608,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047440528.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296484.1",
"strand": true,
"transcript": "XM_047440528.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 533,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1602,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011529062.3",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527364.1",
"strand": true,
"transcript": "XM_011529062.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 532,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 922,
"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011529063.3",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.755G>A",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527365.1",
"strand": true,
"transcript": "XM_011529063.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 780,
"cds_end": null,
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"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047440529.1",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296485.1",
"strand": true,
"transcript": "XM_047440529.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 922,
"cds_end": null,
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"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011529064.3",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527366.1",
"strand": true,
"transcript": "XM_011529064.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 494,
"aa_ref": "R",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1485,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011529065.3",
"gene_hgnc_id": 13444,
"gene_symbol": "SLC2A10",
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527367.1",
"strand": true,
"transcript": "XM_011529065.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1422,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
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