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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: 8-130110398-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=130110398&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 130110398,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001362924.1",
"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": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2401+1696A>G",
"hgvs_p": null,
"transcript": "NM_018482.4",
"protein_id": "NP_060952.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": null,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000518721.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018482.4"
},
{
"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": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2401+1696A>G",
"hgvs_p": null,
"transcript": "ENST00000518721.6",
"protein_id": "ENSP00000429900.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": null,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018482.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518721.6"
},
{
"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": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.1861+1696A>G",
"hgvs_p": null,
"transcript": "ENST00000524124.5",
"protein_id": "ENSP00000429391.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": null,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524124.5"
},
{
"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": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "n.*2383+1696A>G",
"hgvs_p": null,
"transcript": "ENST00000521075.5",
"protein_id": "ENSP00000428463.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521075.5"
},
{
"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": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2410+1696A>G",
"hgvs_p": null,
"transcript": "NM_001362924.1",
"protein_id": "NP_001349853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1132,
"cds_start": null,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362924.1"
},
{
"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": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2401+1696A>G",
"hgvs_p": null,
"transcript": "ENST00000871692.1",
"protein_id": "ENSP00000541751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": null,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871692.1"
},
{
"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": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2380+1696A>G",
"hgvs_p": null,
"transcript": "NM_001247996.2",
"protein_id": "NP_001234925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1122,
"cds_start": null,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001247996.2"
},
{
"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": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2380+1696A>G",
"hgvs_p": null,
"transcript": "ENST00000357668.2",
"protein_id": "ENSP00000350297.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1122,
"cds_start": null,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357668.2"
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2401+1696A>G",
"hgvs_p": null,
"transcript": "ENST00000871693.1",
"protein_id": "ENSP00000541752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871693.1"
},
{
"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": 30,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2410+1696A>G",
"hgvs_p": null,
"transcript": "NM_001362925.2",
"protein_id": "NP_001349854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": null,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362925.2"
},
{
"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": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2401+1696A>G",
"hgvs_p": null,
"transcript": "NM_001362926.2",
"protein_id": "NP_001349855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1072,
"cds_start": null,
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"cds_length": 3219,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362926.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2401+1696A>G",
"hgvs_p": null,
"transcript": "ENST00000962395.1",
"protein_id": "ENSP00000632454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962395.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.1801+1696A>G",
"hgvs_p": null,
"transcript": "ENST00000913391.1",
"protein_id": "ENSP00000583450.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000913391.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.640+1696A>G",
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"transcript": "ENST00000519483.5",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2410+1696A>G",
"hgvs_p": null,
"transcript": "XM_011517052.3",
"protein_id": "XP_011515354.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_011517052.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
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"hgvs_c": "c.2410+1696A>G",
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"transcript": "XM_047421799.1",
"protein_id": "XP_047277755.1",
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"biotype": "protein_coding",
"feature": "XM_047421799.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2401+1696A>G",
"hgvs_p": null,
"transcript": "XM_047421800.1",
"protein_id": "XP_047277756.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "XM_047421800.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2389+1696A>G",
"hgvs_p": null,
"transcript": "XM_011517053.2",
"protein_id": "XP_011515355.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": "protein_coding",
"feature": "XM_011517053.2"
},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2380+1696A>G",
"hgvs_p": null,
"transcript": "XM_047421801.1",
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"feature": "XM_047421801.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
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"hgvs_c": "c.2275+1696A>G",
"hgvs_p": null,
"transcript": "XM_017013467.3",
"protein_id": "XP_016868956.1",
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"feature": "XM_017013467.3"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2266+1696A>G",
"hgvs_p": null,
"transcript": "XM_047421802.1",
"protein_id": "XP_047277758.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421802.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.2242+1696A>G",
"hgvs_p": null,
"transcript": "XM_006716565.3",
"protein_id": "XP_006716628.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1076,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716565.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
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