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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: 15-45587535-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=45587535&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 45587535,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000220531.9",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.82+10A>G",
"hgvs_p": null,
"transcript": "NM_012388.4",
"protein_id": "NP_036520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": "ENST00000220531.9",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.82+10A>G",
"hgvs_p": null,
"transcript": "ENST00000220531.9",
"protein_id": "ENSP00000220531.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": "NM_012388.4",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260170",
"gene_hgnc_id": null,
"hgvs_c": "c.-18+10A>G",
"hgvs_p": null,
"transcript": "ENST00000564080.1",
"protein_id": "ENSP00000455047.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.82+10A>G",
"hgvs_p": null,
"transcript": "ENST00000565216.5",
"protein_id": "ENSP00000456067.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 573,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-44+10A>G",
"hgvs_p": null,
"transcript": "ENST00000569076.5",
"protein_id": "ENSP00000454803.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-80+10A>G",
"hgvs_p": null,
"transcript": "ENST00000562384.5",
"protein_id": "ENSP00000457077.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 494,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-68+10A>G",
"hgvs_p": null,
"transcript": "ENST00000567461.5",
"protein_id": "ENSP00000456152.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.13+10A>G",
"hgvs_p": null,
"transcript": "ENST00000564310.2",
"protein_id": "ENSP00000455439.2",
"transcript_support_level": 3,
"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": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"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": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.147+10A>G",
"hgvs_p": null,
"transcript": "ENST00000566184.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.171+10A>G",
"hgvs_p": null,
"transcript": "ENST00000566753.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.82+10A>G",
"hgvs_p": null,
"transcript": "ENST00000567523.5",
"protein_id": "ENSP00000456624.1",
"transcript_support_level": 2,
"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": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.312+10A>G",
"hgvs_p": null,
"transcript": "ENST00000567740.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.82+10A>G",
"hgvs_p": null,
"transcript": "ENST00000568597.5",
"protein_id": "ENSP00000454638.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 592,
"mane_select": 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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.82+10A>G",
"hgvs_p": null,
"transcript": "ENST00000568963.5",
"protein_id": "ENSP00000454438.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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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": 5,
"intron_rank": 1,
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"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.82+10A>G",
"hgvs_p": null,
"transcript": "ENST00000672455.1",
"protein_id": "ENSP00000500302.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 439,
"mane_select": null,
"mane_plus": null,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.147+10A>G",
"hgvs_p": null,
"transcript": "NR_132351.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.147+10A>G",
"hgvs_p": null,
"transcript": "NR_132352.2",
"protein_id": null,
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"mane_select": 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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.403+10A>G",
"hgvs_p": null,
"transcript": "NR_132353.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.403+10A>G",
"hgvs_p": null,
"transcript": "NR_132354.1",
"protein_id": null,
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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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "n.147+10A>G",
"hgvs_p": null,
"transcript": "NR_132355.2",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001311255.1",
"protein_id": "NP_001298184.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "ENST00000565323.6",
"protein_id": "ENSP00000456851.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S6",
"gene_hgnc_id": 8549,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001311256.1",
"protein_id": "NP_001298185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
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"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
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"verdict": "Benign",
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{
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not specified|BLOC1S6-related disorder|Hermansky-Pudlak syndrome 9",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
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}