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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: 6-33293074-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33293074&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33293074,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004761.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1949G>A",
"hgvs_p": "p.Arg650His",
"transcript": "NM_004761.5",
"protein_id": "NP_004752.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 777,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000497454.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004761.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1949G>A",
"hgvs_p": "p.Arg650His",
"transcript": "ENST00000497454.6",
"protein_id": "ENSP00000420211.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 777,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004761.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497454.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "n.1854G>A",
"hgvs_p": null,
"transcript": "ENST00000437840.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000437840.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.2009G>A",
"hgvs_p": "p.Arg670His",
"transcript": "ENST00000968840.1",
"protein_id": "ENSP00000638899.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 797,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968840.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1994G>A",
"hgvs_p": "p.Arg665His",
"transcript": "ENST00000968838.1",
"protein_id": "ENSP00000638897.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 792,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968838.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Arg657His",
"transcript": "ENST00000908150.1",
"protein_id": "ENSP00000578209.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 784,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908150.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1949G>A",
"hgvs_p": "p.Arg650His",
"transcript": "ENST00000968835.1",
"protein_id": "ENSP00000638894.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 777,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968835.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1946G>A",
"hgvs_p": "p.Arg649His",
"transcript": "ENST00000908151.1",
"protein_id": "ENSP00000578210.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 776,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908151.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1943G>A",
"hgvs_p": "p.Arg648His",
"transcript": "ENST00000968834.1",
"protein_id": "ENSP00000638893.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 775,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968834.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1940G>A",
"hgvs_p": "p.Arg647His",
"transcript": "ENST00000908156.1",
"protein_id": "ENSP00000578215.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 774,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908156.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1940G>A",
"hgvs_p": "p.Arg647His",
"transcript": "ENST00000968841.1",
"protein_id": "ENSP00000638900.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 774,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968841.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1913G>A",
"hgvs_p": "p.Arg638His",
"transcript": "ENST00000968837.1",
"protein_id": "ENSP00000638896.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 765,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968837.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"transcript": "ENST00000908153.1",
"protein_id": "ENSP00000578212.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 759,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908153.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625His",
"transcript": "ENST00000908154.1",
"protein_id": "ENSP00000578213.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 752,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908154.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625His",
"transcript": "ENST00000968836.1",
"protein_id": "ENSP00000638895.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 752,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968836.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623His",
"transcript": "ENST00000908152.1",
"protein_id": "ENSP00000578211.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 750,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908152.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622His",
"transcript": "ENST00000968842.1",
"protein_id": "ENSP00000638901.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 749,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968842.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1853G>A",
"hgvs_p": "p.Arg618His",
"transcript": "ENST00000908155.1",
"protein_id": "ENSP00000578214.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 745,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908155.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1703G>A",
"hgvs_p": "p.Arg568His",
"transcript": "NM_001243738.2",
"protein_id": "NP_001230667.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 695,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243738.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1379G>A",
"hgvs_p": "p.Arg460His",
"transcript": "ENST00000913501.1",
"protein_id": "ENSP00000583560.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 587,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913501.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.2018G>A",
"hgvs_p": "p.Arg673His",
"transcript": "XM_047419199.1",
"protein_id": "XP_047275155.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 800,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419199.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1943G>A",
"hgvs_p": "p.Arg648His",
"transcript": "XM_047419200.1",
"protein_id": "XP_047275156.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 775,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419200.1"
},
{
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{
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{
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{
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{
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{
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],
"gene_symbol": "RGL2",
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"dbsnp": "rs752386398",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3664342164993286,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.1479,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.889,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004761.5",
"gene_symbol": "RGL2",
"hgnc_id": 9769,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000463584.1",
"gene_symbol": "PFDN6",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.260+2624C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}