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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: 2-26204087-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26204087&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 26204087,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_000182.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "NM_000182.5",
          "protein_id": "NP_000173.2",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 763,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2292,
          "cdna_start": 1231,
          "cdna_end": null,
          "cdna_length": 2943,
          "mane_select": "ENST00000380649.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000182.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000380649.8",
          "protein_id": "ENSP00000370023.3",
          "transcript_support_level": 1,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 763,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2292,
          "cdna_start": 1231,
          "cdna_end": null,
          "cdna_length": 2943,
          "mane_select": "NM_000182.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380649.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1360C>G",
          "hgvs_p": "p.Arg454Gly",
          "transcript": "ENST00000942149.1",
          "protein_id": "ENSP00000612208.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": 1360,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": 1366,
          "cdna_end": null,
          "cdna_length": 2844,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942149.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1210C>G",
          "hgvs_p": "p.Arg404Gly",
          "transcript": "ENST00000942146.1",
          "protein_id": "ENSP00000612205.1",
          "transcript_support_level": null,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 1210,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": 1244,
          "cdna_end": null,
          "cdna_length": 2802,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942146.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000492433.2",
          "protein_id": "ENSP00000438039.2",
          "transcript_support_level": 2,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 792,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2379,
          "cdna_start": 1203,
          "cdna_end": null,
          "cdna_length": 2982,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000492433.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000859324.1",
          "protein_id": "ENSP00000529383.1",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 790,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2373,
          "cdna_start": 1459,
          "cdna_end": null,
          "cdna_length": 3251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859324.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1189C>G",
          "hgvs_p": "p.Arg397Gly",
          "transcript": "ENST00000942150.1",
          "protein_id": "ENSP00000612209.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 788,
          "cds_start": 1189,
          "cds_end": null,
          "cds_length": 2367,
          "cdna_start": 1195,
          "cdna_end": null,
          "cdna_length": 2755,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942150.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1246C>G",
          "hgvs_p": "p.Arg416Gly",
          "transcript": "ENST00000859333.1",
          "protein_id": "ENSP00000529392.1",
          "transcript_support_level": null,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 1246,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 1254,
          "cdna_end": null,
          "cdna_length": 2729,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859333.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000942153.1",
          "protein_id": "ENSP00000612212.1",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": 1201,
          "cdna_end": null,
          "cdna_length": 2712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942153.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000942145.1",
          "protein_id": "ENSP00000612204.1",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 769,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2310,
          "cdna_start": 1248,
          "cdna_end": null,
          "cdna_length": 2744,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942145.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1210C>G",
          "hgvs_p": "p.Arg404Gly",
          "transcript": "ENST00000859325.1",
          "protein_id": "ENSP00000529384.1",
          "transcript_support_level": null,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 768,
          "cds_start": 1210,
          "cds_end": null,
          "cds_length": 2307,
          "cdna_start": 1246,
          "cdna_end": null,
          "cdna_length": 2958,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859325.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000942141.1",
          "protein_id": "ENSP00000612200.1",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 763,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2292,
          "cdna_start": 1293,
          "cdna_end": null,
          "cdna_length": 2767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942141.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000942144.1",
          "protein_id": "ENSP00000612203.1",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 763,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2292,
          "cdna_start": 1364,
          "cdna_end": null,
          "cdna_length": 2844,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942144.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000925541.1",
          "protein_id": "ENSP00000595600.1",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": 1195,
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          "cds_length": 2286,
          "cdna_start": 1227,
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          "cdna_length": 2699,
          "mane_select": null,
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        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1189C>G",
          "hgvs_p": "p.Arg397Gly",
          "transcript": "ENST00000942142.1",
          "protein_id": "ENSP00000612201.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
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          "cds_start": 1189,
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          "cds_length": 2286,
          "cdna_start": 1350,
          "cdna_end": null,
          "cdna_length": 3061,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942142.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1186C>G",
          "hgvs_p": "p.Arg396Gly",
          "transcript": "ENST00000859327.1",
          "protein_id": "ENSP00000529386.1",
          "transcript_support_level": null,
          "aa_start": 396,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": 1186,
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          "cdna_start": 1194,
          "cdna_end": null,
          "cdna_length": 2904,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000859327.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1186C>G",
          "hgvs_p": "p.Arg396Gly",
          "transcript": "ENST00000942147.1",
          "protein_id": "ENSP00000612206.1",
          "transcript_support_level": null,
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          "cds_start": 1186,
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          "mane_select": null,
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        },
        {
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          "strand": false,
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            "missense_variant"
          ],
          "exon_rank": 12,
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          "intron_rank": null,
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          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000859332.1",
          "protein_id": "ENSP00000529391.1",
          "transcript_support_level": null,
          "aa_start": 399,
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          "cds_start": 1195,
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          "cds_length": 2256,
          "cdna_start": 1203,
          "cdna_end": null,
          "cdna_length": 2644,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1153C>G",
          "hgvs_p": "p.Arg385Gly",
          "transcript": "ENST00000942143.1",
          "protein_id": "ENSP00000612202.1",
          "transcript_support_level": null,
          "aa_start": 385,
          "aa_end": null,
          "aa_length": 749,
          "cds_start": 1153,
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          "cds_length": 2250,
          "cdna_start": 1183,
          "cdna_end": null,
          "cdna_length": 2887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942143.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly",
          "transcript": "ENST00000859331.1",
          "protein_id": "ENSP00000529390.1",
          "transcript_support_level": null,
          "aa_start": 399,
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          "aa_length": 740,
          "cds_start": 1195,
          "cds_end": null,
          "cds_length": 2223,
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      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.719,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.455,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.27,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 2.554,
      "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": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_000182.5",
          "gene_symbol": "HADHA",
          "hgnc_id": 4801,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1195C>G",
          "hgvs_p": "p.Arg399Gly"
        },
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "XM_011532567.4",
          "gene_symbol": "GAREM2",
          "hgnc_id": 27172,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*1768G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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