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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: 13-43355976-GCGGGGAT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=43355976&ref=GCGGGGAT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 43355976,
"ref": "GCGGGGAT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000690772.1",
"consequences": [
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_001347969.2",
"protein_id": "NP_001334898.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "ENST00000690772.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "ENST00000690772.1",
"protein_id": "ENSP00000509229.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "NM_001347969.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "ENST00000261488.10",
"protein_id": "ENSP00000261488.6",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.864_870delATCCCCG",
"hgvs_p": "p.Ser289fs",
"transcript": "NM_001347963.2",
"protein_id": "NP_001334892.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 678,
"cds_start": 864,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_001127615.3",
"protein_id": "NP_001121087.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_001242863.3",
"protein_id": "NP_001229792.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_001347964.2",
"protein_id": "NP_001334893.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_001347965.2",
"protein_id": "NP_001334894.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_001347966.2",
"protein_id": "NP_001334895.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_001347967.2",
"protein_id": "NP_001334896.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PSP",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_001347968.2",
"protein_id": "NP_001334897.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 643,
"cds_start": 759,
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"cdna_start": 1422,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "ENOX1",
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"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "NM_017993.5",
"protein_id": "NP_060463.2",
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"aa_start": 253,
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"aa_length": 643,
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"cdna_start": 1407,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.642_648delATCCCCG",
"hgvs_p": "p.Ser215fs",
"transcript": "NM_001347970.2",
"protein_id": "NP_001334899.1",
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"aa_start": 214,
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"aa_length": 604,
"cds_start": 642,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.642_648delATCCCCG",
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"transcript": "NM_001347971.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "XM_011535127.4",
"protein_id": "XP_011533429.1",
"transcript_support_level": null,
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},
{
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],
"exon_rank": 10,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "XM_024449373.2",
"protein_id": "XP_024305141.1",
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},
{
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"consequences": [
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],
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "XM_024449374.2",
"protein_id": "XP_024305142.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "XM_047430416.1",
"protein_id": "XP_047286372.1",
"transcript_support_level": null,
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"aa_end": null,
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},
{
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"consequences": [
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],
"exon_rank": 12,
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"intron_rank": null,
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"gene_symbol": "ENOX1",
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"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
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},
{
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"consequences": [
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],
"exon_rank": 11,
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"intron_rank": null,
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"gene_symbol": "ENOX1",
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"hgvs_p": "p.Ser254fs",
"transcript": "XM_047430418.1",
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},
{
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],
"exon_rank": 10,
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"intron_rank": null,
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"gene_symbol": "ENOX1",
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"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "XM_047430419.1",
"protein_id": "XP_047286375.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX1",
"gene_hgnc_id": 25474,
"hgvs_c": "c.759_765delATCCCCG",
"hgvs_p": "p.Ser254fs",
"transcript": "XM_047430420.1",
"protein_id": "XP_047286376.1",
"transcript_support_level": null,
"aa_start": 253,
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"cds_start": 759,
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"cdna_start": 32083,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "ENOX1",
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}
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{
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],
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}