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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: 9-136952973-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136952973&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LCN12",
"hgnc_id": 28733,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_178536.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 10,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1008,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "9",
"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": 0.10406935214996338,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 192,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 732,
"cdna_start": 251,
"cds_end": null,
"cds_length": 579,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_178536.4",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371633.8",
"protein_coding": true,
"protein_id": "NP_848631.2",
"strand": true,
"transcript": "NM_178536.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 192,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 732,
"cdna_start": 251,
"cds_end": null,
"cds_length": 579,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000371633.8",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_178536.4",
"protein_coding": true,
"protein_id": "ENSP00000360696.3",
"strand": true,
"transcript": "ENST00000371633.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 192,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 718,
"cdna_start": 240,
"cds_end": null,
"cds_length": 579,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000874070.1",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544129.1",
"strand": true,
"transcript": "ENST00000874070.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 153,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 651,
"cdna_start": 287,
"cds_end": null,
"cds_length": 462,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000874069.1",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544128.1",
"strand": true,
"transcript": "ENST00000874069.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 153,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 583,
"cdna_start": 220,
"cds_end": null,
"cds_length": 462,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000961465.1",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631524.1",
"strand": true,
"transcript": "ENST00000961465.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 382,
"aa_ref": "A",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 845,
"cds_end": null,
"cds_length": 1149,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011518560.3",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Ala93Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516862.1",
"strand": true,
"transcript": "XM_011518560.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 355,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3313,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1068,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006717065.4",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717128.1",
"strand": true,
"transcript": "XM_006717065.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 355,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 246,
"cds_end": null,
"cds_length": 1068,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011518562.3",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516864.1",
"strand": true,
"transcript": "XM_011518562.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 962,
"cdna_start": 251,
"cds_end": null,
"cds_length": 660,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047423247.1",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279203.1",
"strand": true,
"transcript": "XM_047423247.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 251,
"cds_end": null,
"cds_length": 600,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017014631.2",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870120.2",
"strand": true,
"transcript": "XM_017014631.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 731,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000463714.2",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000463714.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000470501.5",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.208G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000470501.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 489,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000471615.6",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.22G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473473.1",
"strand": true,
"transcript": "ENST00000471615.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000484304.1",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.444G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484304.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 629,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000491316.5",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.121G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491316.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000491603.5",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491603.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 535,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000492820.5",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.148G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000492820.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000495410.1",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.307G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000495410.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000496895.1",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.53G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000496895.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_001746278.2",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.251G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001746278.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_001746279.3",
"gene_hgnc_id": 28733,
"gene_symbol": "LCN12",
"hgvs_c": "n.251G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001746279.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
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"cdna_end": null,
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{
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{
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],
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],
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}
]
}