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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: 1-211289185-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=211289185&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 211289185,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001350069.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "NM_001136223.3",
"protein_id": "NP_001129695.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 553,
"cds_start": 728,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000419091.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136223.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "ENST00000419091.7",
"protein_id": "ENSP00000413929.2",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 553,
"cds_start": 728,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136223.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419091.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Ile",
"transcript": "ENST00000367005.8",
"protein_id": "ENSP00000355972.4",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 495,
"cds_start": 554,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367005.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "ENST00000367006.8",
"protein_id": "ENSP00000355973.4",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 436,
"cds_start": 728,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367006.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.827C>T",
"hgvs_p": "p.Thr276Ile",
"transcript": "ENST00000905998.1",
"protein_id": "ENSP00000576057.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 586,
"cds_start": 827,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905998.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Thr275Ile",
"transcript": "NM_001350069.2",
"protein_id": "NP_001336998.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 585,
"cds_start": 824,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350069.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Thr275Ile",
"transcript": "ENST00000905997.1",
"protein_id": "ENSP00000576056.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 585,
"cds_start": 824,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905997.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Thr244Ile",
"transcript": "ENST00000942863.1",
"protein_id": "ENSP00000612922.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 582,
"cds_start": 731,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942863.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "ENST00000906000.1",
"protein_id": "ENSP00000576059.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 581,
"cds_start": 728,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906000.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Thr244Ile",
"transcript": "ENST00000905995.1",
"protein_id": "ENSP00000576054.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 551,
"cds_start": 731,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905995.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "ENST00000905993.1",
"protein_id": "ENSP00000576052.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 527,
"cds_start": 728,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905993.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Thr244Ile",
"transcript": "ENST00000905999.1",
"protein_id": "ENSP00000576058.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 510,
"cds_start": 731,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905999.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Ile",
"transcript": "NM_018254.5",
"protein_id": "NP_060724.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 495,
"cds_start": 554,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018254.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Thr244Ile",
"transcript": "ENST00000905994.1",
"protein_id": "ENSP00000576053.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 494,
"cds_start": 731,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905994.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "ENST00000905991.1",
"protein_id": "ENSP00000576050.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 493,
"cds_start": 728,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905991.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Thr175Ile",
"transcript": "ENST00000905996.1",
"protein_id": "ENSP00000576055.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 485,
"cds_start": 524,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905996.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "NM_001136225.3",
"protein_id": "NP_001129697.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 449,
"cds_start": 728,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136225.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "ENST00000452621.6",
"protein_id": "ENSP00000398558.2",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 449,
"cds_start": 728,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452621.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "NM_001136224.4",
"protein_id": "NP_001129696.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 436,
"cds_start": 728,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136224.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "NM_001350070.2",
"protein_id": "NP_001336999.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 432,
"cds_start": 365,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350070.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Ile",
"transcript": "ENST00000905992.1",
"protein_id": "ENSP00000576051.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 427,
"cds_start": 728,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905992.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "ENST00000942864.1",
"protein_id": "ENSP00000612923.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 306,
"cds_start": 365,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "RCOR3",
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"hgvs_c": "n.-149C>T",
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"transcript": "ENST00000485186.1",
"protein_id": "ENSP00000434181.1",
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000485186.1"
}
],
"gene_symbol": "RCOR3",
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"dbsnp": "rs1698940120",
"frequency_reference_population": 0.0000013685882,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136859,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09018388390541077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.977,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350069.2",
"gene_symbol": "RCOR3",
"hgnc_id": 25594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Thr275Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}