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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: 11-13291422-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=13291422&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 13291422,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000403290.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-263+13499G>A",
"hgvs_p": null,
"transcript": "NM_001297719.2",
"protein_id": "NP_001284648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": "ENST00000403290.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-263+13499G>A",
"hgvs_p": null,
"transcript": "ENST00000403290.6",
"protein_id": "ENSP00000384517.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": "NM_001297719.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-263+13499G>A",
"hgvs_p": null,
"transcript": "ENST00000389707.8",
"protein_id": "ENSP00000374357.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-408+13499G>A",
"hgvs_p": null,
"transcript": "ENST00000401424.6",
"protein_id": "ENSP00000385915.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-208+13499G>A",
"hgvs_p": null,
"transcript": "NM_001351807.2",
"protein_id": "NP_001338736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-263+13499G>A",
"hgvs_p": null,
"transcript": "NM_001351814.2",
"protein_id": "NP_001338743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
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"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-208+13499G>A",
"hgvs_p": null,
"transcript": "NM_001351819.2",
"protein_id": "NP_001338748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
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"cds_length": 1893,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-362+13499G>A",
"hgvs_p": null,
"transcript": "ENST00000673817.1",
"protein_id": "ENSP00000501212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BMAL1",
"gene_hgnc_id": 701,
"hgvs_c": "c.-208+13499G>A",
"hgvs_p": null,
"transcript": "NM_001297722.2",
"protein_id": "NP_001284651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "BMAL1",
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"hgvs_c": "c.-82+13499G>A",
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"transcript": "NM_001351824.2",
"protein_id": "NP_001338753.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "BMAL1",
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"hgvs_c": "c.-208+13499G>A",
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"transcript": "ENST00000403510.8",
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},
{
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],
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},
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],
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],
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"gene_symbol": "BMAL1",
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],
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},
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],
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"gene_symbol": "BMAL1",
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},
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"transcript": "NM_001351805.2",
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},
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],
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"gene_symbol": "BMAL1",
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"hgvs_c": "c.-208+13499G>A",
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"transcript": "NM_001351806.2",
"protein_id": "NP_001338735.1",
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],
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],
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],
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"hgvs_c": "c.-408+13499G>A",
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"transcript": "NM_001351813.2",
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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": "BMAL1",
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"hgvs_c": "c.-401+13499G>A",
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"transcript": "NM_001297724.2",
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},
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