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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: 2-65080227-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=65080227&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 65080227,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000377990.7",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2104+2263C>A",
"hgvs_p": null,
"transcript": "NM_015147.3",
"protein_id": "NP_055962.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": "ENST00000377990.7",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2104+2263C>A",
"hgvs_p": null,
"transcript": "ENST00000377990.7",
"protein_id": "ENSP00000367229.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": "NM_015147.3",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.1693+2263C>A",
"hgvs_p": null,
"transcript": "ENST00000260569.4",
"protein_id": "ENSP00000260569.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5343,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2104+2263C>A",
"hgvs_p": null,
"transcript": "NM_001319100.2",
"protein_id": "NP_001306029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5799,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2104+2263C>A",
"hgvs_p": null,
"transcript": "ENST00000704486.1",
"protein_id": "ENSP00000515914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5756,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2050+2263C>A",
"hgvs_p": null,
"transcript": "ENST00000704570.1",
"protein_id": "ENSP00000515946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5788,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2105-49C>A",
"hgvs_p": null,
"transcript": "NM_001410838.1",
"protein_id": "NP_001397767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2838,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2105-49C>A",
"hgvs_p": null,
"transcript": "ENST00000703985.1",
"protein_id": "ENSP00000515602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3612,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2105-49C>A",
"hgvs_p": null,
"transcript": "ENST00000704388.1",
"protein_id": "ENSP00000515890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2519,
"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,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.1981+2263C>A",
"hgvs_p": null,
"transcript": "ENST00000703983.1",
"protein_id": "ENSP00000515601.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 716,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.2008-3412C>A",
"hgvs_p": null,
"transcript": "ENST00000704487.1",
"protein_id": "ENSP00000515915.1",
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"cds_start": -4,
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},
{
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],
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"gene_symbol": "CEP68",
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"hgvs_c": "c.1693+2263C>A",
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"transcript": "NM_001319101.2",
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "CEP68",
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"hgvs_c": "c.940+2263C>A",
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"transcript": "ENST00000475851.2",
"protein_id": "ENSP00000515515.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "CEP68",
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"hgvs_c": "c.940+2263C>A",
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"transcript": "ENST00000704481.1",
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},
{
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],
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"gene_symbol": "CEP68",
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"hgvs_c": "c.941-49C>A",
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"transcript": "ENST00000704387.1",
"protein_id": "ENSP00000515889.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "RAB1A",
"gene_hgnc_id": 9758,
"hgvs_c": "n.268-9023G>T",
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"transcript": "ENST00000494188.1",
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},
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],
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"intron_rank": 7,
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"gene_symbol": "RAB1A",
"gene_hgnc_id": 9758,
"hgvs_c": "n.*255+5282G>T",
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"transcript": "ENST00000649427.1",
"protein_id": "ENSP00000497078.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.2008-2309C>A",
"hgvs_p": null,
"transcript": "ENST00000703915.1",
"protein_id": "ENSP00000515549.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CEP68",
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"hgvs_c": "n.923+2263C>A",
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},
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.*78+2263C>A",
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"transcript": "ENST00000704480.1",
"protein_id": "ENSP00000515909.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.*78+2263C>A",
"hgvs_p": null,
"transcript": "ENST00000704482.1",
"protein_id": "ENSP00000515911.1",
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{
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}