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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: 2-26279244-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26279244&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26279244,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000183.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "NM_000183.3",
"protein_id": "NP_000174.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317799.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000183.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000317799.10",
"protein_id": "ENSP00000325136.5",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000183.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317799.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000942431.1",
"protein_id": "ENSP00000612490.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 502,
"cds_start": 824,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942431.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "ENST00000942426.1",
"protein_id": "ENSP00000612485.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 484,
"cds_start": 770,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942426.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Arg256His",
"transcript": "ENST00000859601.1",
"protein_id": "ENSP00000529660.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 483,
"cds_start": 767,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859601.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His",
"transcript": "ENST00000942427.1",
"protein_id": "ENSP00000612486.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 478,
"cds_start": 752,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942427.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000859582.1",
"protein_id": "ENSP00000529641.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859582.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000859593.1",
"protein_id": "ENSP00000529652.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859593.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000859599.1",
"protein_id": "ENSP00000529658.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859599.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000942424.1",
"protein_id": "ENSP00000612483.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942424.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000942425.1",
"protein_id": "ENSP00000612484.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942425.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000942434.1",
"protein_id": "ENSP00000612493.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942434.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000942437.1",
"protein_id": "ENSP00000612496.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942437.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000942440.1",
"protein_id": "ENSP00000612499.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942440.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000942441.1",
"protein_id": "ENSP00000612500.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942441.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000942445.1",
"protein_id": "ENSP00000612504.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 474,
"cds_start": 740,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942445.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000859584.1",
"protein_id": "ENSP00000529643.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 472,
"cds_start": 740,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859584.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000859587.1",
"protein_id": "ENSP00000529646.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 472,
"cds_start": 740,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859587.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000942429.1",
"protein_id": "ENSP00000612488.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 470,
"cds_start": 740,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942429.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241His",
"transcript": "ENST00000859600.1",
"protein_id": "ENSP00000529659.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 468,
"cds_start": 722,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859600.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"transcript": "ENST00000942435.1",
"protein_id": "ENSP00000612494.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 467,
"cds_start": 719,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942435.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "NM_001281512.2",
"protein_id": "NP_001268441.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 459,
"cds_start": 695,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281512.2"
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{
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{
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{
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{
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{
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],
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"biotype": "pseudogene",
"feature": "ENST00000494615.1"
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],
"gene_symbol": "HADHB",
"gene_hgnc_id": 4803,
"dbsnp": "rs121913133",
"frequency_reference_population": 0.000010952078,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000109521,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9697001576423645,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.816,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3159,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.525,
"phylop100way_prediction": "Pathogenic",
"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": 17,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 17,
"benign_score": 0,
"pathogenic_score": 17,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000183.3",
"gene_symbol": "HADHB",
"hgnc_id": 4803,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His"
}
],
"clinvar_disease": "Mitochondrial trifunctional protein deficiency,Mitochondrial trifunctional protein deficiency 1,Mitochondrial trifunctional protein deficiency 2,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"phenotype_combined": "not provided|Mitochondrial trifunctional protein deficiency 2|Mitochondrial trifunctional protein deficiency|Mitochondrial trifunctional protein deficiency 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}