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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: 11-117392628-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117392628&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117392628,
"ref": "G",
"alt": "A",
"effect": "splice_donor_variant,intron_variant",
"transcript": "ENST00000278935.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2493+1G>A",
"hgvs_p": null,
"transcript": "NM_014956.5",
"protein_id": "NP_055771.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1460,
"cds_start": -4,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": "ENST00000278935.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2493+1G>A",
"hgvs_p": null,
"transcript": "ENST00000278935.8",
"protein_id": "ENSP00000278935.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1460,
"cds_start": -4,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": "NM_014956.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.3375+1G>A",
"hgvs_p": null,
"transcript": "ENST00000533223.1",
"protein_id": null,
"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": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2502+1G>A",
"hgvs_p": null,
"transcript": "NM_001440949.1",
"protein_id": "NP_001427878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2493+1G>A",
"hgvs_p": null,
"transcript": "NM_001440950.1",
"protein_id": "NP_001427879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1460,
"cds_start": -4,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2493+1G>A",
"hgvs_p": null,
"transcript": "NM_001440951.1",
"protein_id": "NP_001427880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1460,
"cds_start": -4,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2328+1G>A",
"hgvs_p": null,
"transcript": "NM_001440952.1",
"protein_id": "NP_001427881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": -4,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2502+1G>A",
"hgvs_p": null,
"transcript": "NM_001271933.2",
"protein_id": "NP_001258862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1455,
"cds_start": -4,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2493+1G>A",
"hgvs_p": null,
"transcript": "NM_001440953.1",
"protein_id": "NP_001427882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1452,
"cds_start": -4,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2415+1G>A",
"hgvs_p": null,
"transcript": "NM_001440954.1",
"protein_id": "NP_001427883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1434,
"cds_start": -4,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
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"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2415+1G>A",
"hgvs_p": null,
"transcript": "NM_001440955.1",
"protein_id": "NP_001427884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1434,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2406+1G>A",
"hgvs_p": null,
"transcript": "NM_001440956.1",
"protein_id": "NP_001427885.1",
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2406+1G>A",
"hgvs_p": null,
"transcript": "NM_001440957.1",
"protein_id": "NP_001427886.1",
"transcript_support_level": 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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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2415+1G>A",
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"protein_id": "NP_001427887.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2415+1G>A",
"hgvs_p": null,
"transcript": "NM_001440959.1",
"protein_id": "NP_001427888.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
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"hgvs_c": "c.2364+1G>A",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2355+1G>A",
"hgvs_p": null,
"transcript": "NM_001440961.1",
"protein_id": "NP_001427890.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2346+1G>A",
"hgvs_p": null,
"transcript": "NM_001440962.1",
"protein_id": "NP_001427891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CEP164",
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"hgvs_c": "c.2346+1G>A",
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"transcript": "NM_001440963.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2346+1G>A",
"hgvs_p": null,
"transcript": "NM_001440964.1",
"protein_id": "NP_001427893.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2346+1G>A",
"hgvs_p": null,
"transcript": "NM_001440965.1",
"protein_id": "NP_001427894.1",
"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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"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.2346+1G>A",
"hgvs_p": null,
"transcript": "NM_001440966.1",
"protein_id": "NP_001427895.1",
"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,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Nephronophthisis 15",
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}
],
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}