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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: 22-28687895-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=28687895&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 28687895,
      "ref": "G",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_007194.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "n.*1124C>T",
          "hgvs_p": null,
          "transcript": "ENST00000416671.5",
          "protein_id": "ENSP00000402225.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2560,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "NM_007194.4",
          "protein_id": "NP_009125.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1844,
          "mane_select": "ENST00000404276.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "ENST00000404276.6",
          "protein_id": "ENSP00000385747.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1844,
          "mane_select": "NM_007194.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "ENST00000382580.6",
          "protein_id": "ENSP00000372023.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 586,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1761,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1971,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "ENST00000402731.6",
          "protein_id": "ENSP00000384835.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "n.*1124C>T",
          "hgvs_p": null,
          "transcript": "ENST00000416671.5",
          "protein_id": "ENSP00000402225.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2560,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "n.*931C>T",
          "hgvs_p": null,
          "transcript": "ENST00000417588.5",
          "protein_id": "ENSP00000412901.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1551,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "n.*702C>T",
          "hgvs_p": null,
          "transcript": "ENST00000433728.5",
          "protein_id": "ENSP00000404400.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1580,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "n.*1026C>T",
          "hgvs_p": null,
          "transcript": "ENST00000448511.5",
          "protein_id": "ENSP00000404567.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "n.368C>T",
          "hgvs_p": null,
          "transcript": "ENST00000472807.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 514,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "n.1186C>T",
          "hgvs_p": null,
          "transcript": "ENST00000648295.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "n.*369C>T",
          "hgvs_p": null,
          "transcript": "ENST00000711048.1",
          "protein_id": "ENSP00000518557.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "NM_001005735.3",
          "protein_id": "NP_001005735.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 586,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "NM_001438293.1",
          "protein_id": "NP_001425222.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 574,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1725,
          "cdna_start": null,
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          "cdna_length": 1938,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
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            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
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        },
        {
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          "protein_coding": true,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "NM_001438295.1",
          "protein_id": "NP_001425224.1",
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          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 1638,
          "cdna_start": null,
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          "cdna_length": 1851,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "ENST00000405598.5",
          "protein_id": "ENSP00000386087.1",
          "transcript_support_level": 5,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
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        },
        {
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
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          "transcript": "NM_145862.3",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
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          "transcript": "ENST00000348295.7",
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          "cdna_start": null,
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          "cdna_length": 1771,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHEK2",
          "gene_hgnc_id": 16627,
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null,
          "transcript": "NM_001349956.3",
          "protein_id": "NP_001336885.1",
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          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 452,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1359,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1359,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CHEK2",
      "gene_hgnc_id": 16627,
      "dbsnp": "rs1555911522",
      "frequency_reference_population": 0.0000020790683,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": 0.00000207907,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.800000011920929,
      "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": -0.8,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.037,
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_007194.4",
          "gene_symbol": "CHEK2",
          "hgnc_id": 16627,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.*2C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Familial cancer of breast,Hereditary cancer-predisposing syndrome",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 B:1",
      "phenotype_combined": "Hereditary cancer-predisposing syndrome|Familial cancer of breast",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}