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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: 12-76481681-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=76481681&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 76481681,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000261183.8",
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.42+5829G>A",
"hgvs_p": null,
"transcript": "NM_020841.5",
"protein_id": "NP_065892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": "ENST00000261183.8",
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.42+5829G>A",
"hgvs_p": null,
"transcript": "ENST00000261183.8",
"protein_id": "ENSP00000261183.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": -4,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": "NM_020841.5",
"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": 5,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-48+5829G>A",
"hgvs_p": null,
"transcript": "ENST00000393249.6",
"protein_id": "ENSP00000376939.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": -4,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7047,
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-85+5829G>A",
"hgvs_p": null,
"transcript": "ENST00000611266.4",
"protein_id": "ENSP00000478240.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": -4,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7239,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.42+5829G>A",
"hgvs_p": null,
"transcript": "ENST00000547540.5",
"protein_id": "ENSP00000450238.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": -4,
"cds_end": null,
"cds_length": 2164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2583,
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.42+5829G>A",
"hgvs_p": null,
"transcript": "NM_001319653.2",
"protein_id": "NP_001306582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": -4,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7195,
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-39+5829G>A",
"hgvs_p": null,
"transcript": "NM_001003712.2",
"protein_id": "NP_001003712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": -4,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7158,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-48+5829G>A",
"hgvs_p": null,
"transcript": "NM_001319652.2",
"protein_id": "NP_001306581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": -4,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7283,
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-39+5829G>A",
"hgvs_p": null,
"transcript": "ENST00000393250.8",
"protein_id": "ENSP00000376940.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": -4,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3157,
"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,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.3+4354G>A",
"hgvs_p": null,
"transcript": "ENST00000548341.5",
"protein_id": "ENSP00000446886.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
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"cdna_length": 542,
"mane_select": null,
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"biotype": null,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-48+5829G>A",
"hgvs_p": null,
"transcript": "ENST00000553139.5",
"protein_id": "ENSP00000449618.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 110,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "OSBPL8",
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"transcript": "ENST00000549570.5",
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},
{
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"consequences": [
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],
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"gene_symbol": "OSBPL8",
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"hgvs_c": "c.42+5829G>A",
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"transcript": "ENST00000551927.5",
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},
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],
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"gene_symbol": "OSBPL8",
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"hgvs_c": "c.42+5829G>A",
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"transcript": "ENST00000547544.5",
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},
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],
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"transcript": "ENST00000549646.5",
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},
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],
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"protein_id": "ENSP00000447483.1",
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},
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],
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"hgvs_c": "c.111+5829G>A",
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},
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],
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"exon_count": 24,
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"gene_symbol": "OSBPL8",
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"hgvs_c": "c.111+5829G>A",
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"transcript": "XM_017018768.3",
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],
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"gene_symbol": "OSBPL8",
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},
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},
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"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "OSBPL8",
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"hgvs_c": "c.42+5829G>A",
"hgvs_p": null,
"transcript": "XM_047428248.1",
"protein_id": "XP_047284204.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 3,
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"gene_symbol": "OSBPL8",
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"hgvs_c": "c.42+5829G>A",
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"transcript": "XM_047428249.1",
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}