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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: 9-105534551-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=105534551&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FSD1L",
"hgnc_id": 13753,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001145313.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FKTN-AS1",
"hgnc_id": 55797,
"hgvs_c": "n.332-8024C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000815591.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1303,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19307714700698853,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7730,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001145313.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000481272.6",
"protein_coding": true,
"protein_id": "NP_001138785.1",
"strand": true,
"transcript": "NM_001145313.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7730,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000481272.6",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145313.3",
"protein_coding": true,
"protein_id": "ENSP00000417492.1",
"strand": true,
"transcript": "ENST00000481272.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 311,
"aa_ref": "G",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7062,
"cdna_start": 603,
"cds_end": null,
"cds_length": 936,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000374707.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363839.1",
"strand": true,
"transcript": "ENST00000374707.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 541,
"aa_ref": "G",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6049,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000955870.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625929.1",
"strand": true,
"transcript": "ENST00000955870.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7667,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001330739.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317668.1",
"strand": true,
"transcript": "NM_001330739.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000394926.7",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378384.3",
"strand": true,
"transcript": "ENST00000394926.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "G",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7664,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001287191.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Gly340Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274120.1",
"strand": true,
"transcript": "NM_001287191.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "G",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7631,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1494,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001287192.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Gly329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274121.1",
"strand": true,
"transcript": "NM_001287192.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "G",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1494,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000484973.5",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Gly329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419691.1",
"strand": true,
"transcript": "ENST00000484973.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 473,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5778,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1422,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955871.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625930.1",
"strand": true,
"transcript": "ENST00000955871.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 547,
"aa_ref": "G",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7664,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011519077.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Gly379Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517379.1",
"strand": true,
"transcript": "XM_011519077.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 543,
"aa_ref": "G",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7634,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011519078.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517380.2",
"strand": true,
"transcript": "XM_011519078.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 542,
"aa_ref": "G",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7632,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011519079.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517381.2",
"strand": true,
"transcript": "XM_011519079.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 541,
"aa_ref": "G",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7763,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005252254.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252311.1",
"strand": true,
"transcript": "XM_005252254.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "G",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7727,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017015182.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Gly361Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870671.1",
"strand": true,
"transcript": "XM_017015182.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 498,
"aa_ref": "G",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7634,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1497,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017015183.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Gly330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870672.1",
"strand": true,
"transcript": "XM_017015183.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 384,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7170,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1155,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017015184.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Gly216Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870673.1",
"strand": true,
"transcript": "XM_017015184.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 384,
"aa_ref": "G",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7195,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1155,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047423948.1",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Gly216Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279904.1",
"strand": true,
"transcript": "XM_047423948.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 322,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7106,
"cdna_start": 647,
"cds_end": null,
"cds_length": 969,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011519080.3",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517382.1",
"strand": true,
"transcript": "XM_011519080.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7200,
"cdna_start": null,
"cds_end": null,
"cds_length": 1089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017015185.2",
"gene_hgnc_id": 13753,
"gene_symbol": "FSD1L",
"hgvs_c": "c.1065-11807G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870674.1",
"strand": true,
"transcript": "XM_017015185.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7288,
"cdna_start": null,
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]
}