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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: 11-47438755-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47438755&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47438755,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001440490.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Pro381Pro",
"transcript": "NM_005055.5",
"protein_id": "NP_005046.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 412,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298854.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005055.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Pro381Pro",
"transcript": "ENST00000298854.7",
"protein_id": "ENSP00000298854.2",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 412,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005055.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298854.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.966T>C",
"hgvs_p": "p.Pro322Pro",
"transcript": "ENST00000352508.7",
"protein_id": "ENSP00000298853.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 353,
"cds_start": 966,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352508.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.966T>C",
"hgvs_p": "p.Pro322Pro",
"transcript": "ENST00000529341.1",
"protein_id": "ENSP00000431732.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 353,
"cds_start": 966,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529341.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1279T>C",
"hgvs_p": "p.Leu427Leu",
"transcript": "NM_001440490.1",
"protein_id": "NP_001427419.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 520,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440490.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1228T>C",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001440491.1",
"protein_id": "NP_001427420.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 503,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440491.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Pro381Pro",
"transcript": "NM_001440492.1",
"protein_id": "NP_001427421.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 412,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440492.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.946T>C",
"hgvs_p": "p.Leu316Leu",
"transcript": "NM_001440493.1",
"protein_id": "NP_001427422.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 409,
"cds_start": 946,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440493.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1134T>C",
"hgvs_p": "p.Pro378Pro",
"transcript": "ENST00000949301.1",
"protein_id": "ENSP00000619360.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 409,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949301.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1131T>C",
"hgvs_p": "p.Pro377Pro",
"transcript": "ENST00000949304.1",
"protein_id": "ENSP00000619363.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 408,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949304.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1089T>C",
"hgvs_p": "p.Pro363Pro",
"transcript": "NM_001440495.1",
"protein_id": "NP_001427424.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 394,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440495.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1089T>C",
"hgvs_p": "p.Pro363Pro",
"transcript": "ENST00000897203.1",
"protein_id": "ENSP00000567262.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 394,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897203.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1020T>C",
"hgvs_p": "p.Pro340Pro",
"transcript": "NM_001440497.1",
"protein_id": "NP_001427426.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 371,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440497.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1020T>C",
"hgvs_p": "p.Pro340Pro",
"transcript": "NM_001440498.1",
"protein_id": "NP_001427427.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 371,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440498.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1020T>C",
"hgvs_p": "p.Pro340Pro",
"transcript": "ENST00000897204.1",
"protein_id": "ENSP00000567263.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 371,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897204.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Pro328Pro",
"transcript": "NM_001440499.1",
"protein_id": "NP_001427428.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 359,
"cds_start": 984,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440499.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.984T>C",
"hgvs_p": "p.Pro328Pro",
"transcript": "ENST00000524487.5",
"protein_id": "ENSP00000435551.2",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 359,
"cds_start": 984,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524487.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.966T>C",
"hgvs_p": "p.Pro322Pro",
"transcript": "NM_001440500.1",
"protein_id": "NP_001427429.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 353,
"cds_start": 966,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440500.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.966T>C",
"hgvs_p": "p.Pro322Pro",
"transcript": "NM_032645.5",
"protein_id": "NP_116034.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 353,
"cds_start": 966,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032645.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.930T>C",
"hgvs_p": "p.Pro310Pro",
"transcript": "NM_001440502.1",
"protein_id": "NP_001427431.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 341,
"cds_start": 930,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440502.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.930T>C",
"hgvs_p": "p.Pro310Pro",
"transcript": "ENST00000949303.1",
"protein_id": "ENSP00000619362.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 341,
"cds_start": 930,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949303.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.861T>C",
"hgvs_p": "p.Pro287Pro",
"transcript": "NM_001440503.1",
"protein_id": "NP_001427432.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 318,
"cds_start": 861,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440503.1"
},
{
"aa_ref": "P",
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],
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"dbsnp": "rs7126210",
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"hom_count_reference_population": 382575,
"allele_count_reference_population": 1086404,
"gnomad_exomes_af": 0.702782,
"gnomad_genomes_af": 0.624791,
"gnomad_exomes_ac": 991432,
"gnomad_genomes_ac": 94972,
"gnomad_exomes_homalt": 351469,
"gnomad_genomes_homalt": 31106,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.206,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001440490.1",
"gene_symbol": "RAPSN",
"hgnc_id": 9863,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1279T>C",
"hgvs_p": "p.Leu427Leu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007062669.1",
"gene_symbol": "LOC124902673",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144+988A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital myasthenic syndrome,Congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1,Fetal akinesia deformation sequence 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 11|Fetal akinesia deformation sequence 2|Congenital myasthenic syndrome|not provided|Congenital myasthenic syndrome 11;Fetal akinesia deformation sequence 1",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}