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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: 6-15543113-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=15543113&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 15543113,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000344537.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.512-9718A>T",
"hgvs_p": null,
"transcript": "NM_032122.5",
"protein_id": "NP_115498.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": "ENST00000344537.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.512-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000344537.10",
"protein_id": "ENSP00000341680.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": "NM_032122.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.407-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000622898.4",
"protein_id": "ENSP00000481997.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.512-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000338950.9",
"protein_id": "ENSP00000344718.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*510-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000506844.1",
"protein_id": "ENSP00000424202.1",
"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": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105374947",
"gene_hgnc_id": null,
"hgvs_c": "n.11630T>A",
"hgvs_p": null,
"transcript": "XR_007059475.1",
"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": 12888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.461-9718A>T",
"hgvs_p": null,
"transcript": "NM_001271668.2",
"protein_id": "NP_001258597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.461-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000355917.7",
"protein_id": "ENSP00000348183.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.407-9718A>T",
"hgvs_p": null,
"transcript": "NM_001271669.2",
"protein_id": "NP_001258598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.512-9718A>T",
"hgvs_p": null,
"transcript": "NM_183040.2",
"protein_id": "NP_898861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.269-9718A>T",
"hgvs_p": null,
"transcript": "NM_001271667.2",
"protein_id": "NP_001258596.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 270,
"cds_start": -4,
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"cds_length": 813,
"cdna_start": null,
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"cdna_length": 1428,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.407-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000511762.2",
"protein_id": "ENSP00000427473.2",
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"cds_start": -4,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.44-9718A>T",
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"transcript": "ENST00000462989.6",
"protein_id": "ENSP00000427239.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.-39+5217A>T",
"hgvs_p": null,
"transcript": "ENST00000509674.1",
"protein_id": "ENSP00000421797.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "DTNBP1",
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"hgvs_c": "n.*422-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000510395.5",
"protein_id": "ENSP00000424685.1",
"transcript_support_level": 2,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*510-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000513680.5",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.461-9718A>T",
"hgvs_p": null,
"transcript": "ENST00000515875.5",
"protein_id": "ENSP00000425495.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287626",
"gene_hgnc_id": 58090,
"hgvs_c": "n.93+5293T>A",
"hgvs_p": null,
"transcript": "ENST00000824851.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000287626",
"gene_hgnc_id": 58090,
"hgvs_c": "n.97+4016T>A",
"hgvs_p": null,
"transcript": "ENST00000824852.1",
"protein_id": null,
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000287626",
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"hgvs_c": "n.83+4016T>A",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000287626",
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"hgvs_c": "n.89+4016T>A",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287626",
"gene_hgnc_id": 58090,
"hgvs_c": "n.81+4016T>A",
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"transcript": "ENST00000824855.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287626",
"gene_hgnc_id": 58090,
"hgvs_c": "n.90-3576T>A",
"hgvs_p": null,
"transcript": "ENST00000824856.1",
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"aa_start": null,
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},
{
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"verdict": "Benign",
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{
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"verdict": "Benign",
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{
"score": -12,
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}