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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: 6-110958806-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110958806&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GTF3C6",
"hgnc_id": 20872,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_138408.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000298809",
"hgnc_id": null,
"hgvs_c": "n.129+232C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000758068.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 10,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1023,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "6",
"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": 0.03641816973686218,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 213,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 788,
"cdna_start": 101,
"cds_end": null,
"cds_length": 642,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_138408.4",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000329970.8",
"protein_coding": true,
"protein_id": "NP_612417.1",
"strand": true,
"transcript": "NM_138408.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 213,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 788,
"cdna_start": 101,
"cds_end": null,
"cds_length": 642,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000329970.8",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138408.4",
"protein_coding": true,
"protein_id": "ENSP00000357863.4",
"strand": true,
"transcript": "ENST00000329970.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 259,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": 67,
"cds_end": null,
"cds_length": 780,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935770.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605829.1",
"strand": true,
"transcript": "ENST00000935770.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 232,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": 43,
"cds_end": null,
"cds_length": 699,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935771.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605830.1",
"strand": true,
"transcript": "ENST00000935771.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 881,
"cdna_start": 101,
"cds_end": null,
"cds_length": 669,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935762.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605821.1",
"strand": true,
"transcript": "ENST00000935762.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 214,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 64,
"cds_end": null,
"cds_length": 645,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000883260.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553319.1",
"strand": true,
"transcript": "ENST00000883260.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 213,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 790,
"cdna_start": 103,
"cds_end": null,
"cds_length": 642,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935766.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605825.1",
"strand": true,
"transcript": "ENST00000935766.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 212,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 330,
"cds_end": null,
"cds_length": 639,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935759.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605818.1",
"strand": true,
"transcript": "ENST00000935759.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 212,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 816,
"cdna_start": 116,
"cds_end": null,
"cds_length": 639,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935764.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605823.1",
"strand": true,
"transcript": "ENST00000935764.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 211,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 752,
"cdna_start": 64,
"cds_end": null,
"cds_length": 636,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000883264.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553323.1",
"strand": true,
"transcript": "ENST00000883264.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 211,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 751,
"cdna_start": 64,
"cds_end": null,
"cds_length": 636,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000883265.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553324.1",
"strand": true,
"transcript": "ENST00000883265.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 211,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": 129,
"cds_end": null,
"cds_length": 636,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935763.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605822.1",
"strand": true,
"transcript": "ENST00000935763.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": 119,
"cds_end": null,
"cds_length": 636,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935765.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605824.1",
"strand": true,
"transcript": "ENST00000935765.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 210,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 779,
"cdna_start": 101,
"cds_end": null,
"cds_length": 633,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000883262.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553321.1",
"strand": true,
"transcript": "ENST00000883262.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 210,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 860,
"cdna_start": 119,
"cds_end": null,
"cds_length": 633,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935760.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605819.1",
"strand": true,
"transcript": "ENST00000935760.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 199,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 819,
"cdna_start": 167,
"cds_end": null,
"cds_length": 600,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935761.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605820.1",
"strand": true,
"transcript": "ENST00000935761.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 198,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": 64,
"cds_end": null,
"cds_length": 597,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000883263.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553322.1",
"strand": true,
"transcript": "ENST00000883263.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 186,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 712,
"cdna_start": 106,
"cds_end": null,
"cds_length": 561,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000883261.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553320.1",
"strand": true,
"transcript": "ENST00000883261.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 185,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 680,
"cdna_start": 64,
"cds_end": null,
"cds_length": 558,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935767.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605826.1",
"strand": true,
"transcript": "ENST00000935767.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 176,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 649,
"cdna_start": 60,
"cds_end": null,
"cds_length": 531,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000935768.1",
"gene_hgnc_id": 20872,
"gene_symbol": "GTF3C6",
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Gly13Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605827.1",
"strand": true,
"transcript": "ENST00000935768.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 175,
"aa_ref": "G",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 637,
"cdna_start": 64,
"cds_end": null,
"cds_length": 528,
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"consequences": [
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]
}