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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: 8-130177997-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=130177997&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 130177997,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000518721.6",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.746+1267G>C",
"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": -4,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": "ENST00000518721.6",
"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": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.746+1267G>C",
"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": -4,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": "NM_018482.4",
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.197+1267G>C",
"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": -4,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5478,
"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": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "n.*728+1267G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5406,
"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": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.746+1267G>C",
"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": -4,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6254,
"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": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.725+1267G>C",
"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": -4,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6361,
"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": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.725+1267G>C",
"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": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6344,
"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": 30,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.746+1267G>C",
"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": -4,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6097,
"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": 29,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.746+1267G>C",
"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": -4,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
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"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
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"hgvs_c": "n.656+1267G>C",
"hgvs_p": null,
"transcript": "ENST00000524367.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 9,
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"gene_symbol": "ASAP1",
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"hgvs_c": "c.746+1267G>C",
"hgvs_p": null,
"transcript": "XM_011517052.3",
"protein_id": "XP_011515354.1",
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},
{
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"consequences": [
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],
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},
{
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],
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"gene_symbol": "ASAP1",
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"hgvs_c": "c.746+1267G>C",
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"transcript": "XM_047421800.1",
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],
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"gene_symbol": "ASAP1",
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"hgvs_c": "c.725+1267G>C",
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},
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],
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},
{
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],
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"gene_symbol": "ASAP1",
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"hgvs_c": "c.611+1267G>C",
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},
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],
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"gene_symbol": "ASAP1",
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"transcript": "XM_006716565.3",
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],
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"gene_symbol": "ASAP1",
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"hgvs_c": "c.569+1267G>C",
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"consequences": [
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],
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"gene_symbol": "ASAP1",
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"transcript": "XM_047421805.1",
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},
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"consequences": [
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],
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"gene_symbol": "ASAP1",
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"hgvs_c": "c.569+1267G>C",
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"transcript": "XM_047421806.1",
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}