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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: 12-111472415-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111472415&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111472415,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000673436.1",
"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": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2525-1673T>G",
"hgvs_p": null,
"transcript": "NM_001372574.1",
"protein_id": "NP_001359503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1155,
"cds_start": -4,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": "ENST00000673436.1",
"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": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2525-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000673436.1",
"protein_id": "ENSP00000500925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1155,
"cds_start": -4,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": "NM_001372574.1",
"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": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2999-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000550104.5",
"protein_id": "ENSP00000446576.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1313,
"cds_start": -4,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4648,
"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": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2519-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000608853.5",
"protein_id": "ENSP00000476504.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1153,
"cds_start": -4,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4376,
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2204-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000542287.6",
"protein_id": "ENSP00000445583.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": -4,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3443,
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2132-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000535949.5",
"protein_id": "ENSP00000439338.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": -4,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3205,
"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": 24,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "n.2458-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000483311.6",
"protein_id": "ENSP00000446512.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4159,
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2519-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000673449.1",
"protein_id": "ENSP00000500646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": -4,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3754,
"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": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2561-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000673557.1",
"protein_id": "ENSP00000500766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1167,
"cds_start": -4,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
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"cdna_length": 3926,
"mane_select": null,
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"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2558-1673T>G",
"hgvs_p": null,
"transcript": "ENST00000643669.2",
"protein_id": "ENSP00000494663.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": 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": 25,
"intron_rank": 18,
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"gene_symbol": "ATXN2",
"gene_hgnc_id": 10555,
"hgvs_c": "c.2519-1673T>G",
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"transcript": "NM_002973.4",
"protein_id": "NP_002964.4",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ATXN2",
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"transcript": "ENST00000672613.1",
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},
{
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],
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"gene_symbol": "ATXN2",
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"hgvs_c": "c.2321-1673T>G",
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"transcript": "ENST00000389153.10",
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},
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],
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"gene_symbol": "ATXN2",
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"hgvs_c": "c.2204-1673T>G",
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"transcript": "NM_001310121.1",
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},
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],
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"transcript": "ENST00000673283.1",
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},
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],
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"gene_symbol": "ATXN2",
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],
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"gene_symbol": "ATXN2",
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"hgvs_c": "c.2132-1673T>G",
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"transcript": "ENST00000616825.4",
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},
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],
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"exon_count": 21,
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"gene_symbol": "ATXN2",
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"hgvs_c": "c.2552-1673T>G",
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"transcript": "ENST00000647305.1",
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],
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"gene_symbol": "ATXN2",
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},
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],
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"gene_symbol": "ATXN2",
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"hgvs_c": "c.125-1673T>G",
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"transcript": "ENST00000643474.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "ATXN2",
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"hgvs_c": "c.181+6655T>G",
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"transcript": "ENST00000643694.1",
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}