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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: 2-178328293-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178328293&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178328293,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001201480.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "NM_032523.4",
"protein_id": "NP_115912.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": "ENST00000190611.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032523.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000190611.9",
"protein_id": "ENSP00000190611.4",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": "NM_032523.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000190611.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000392505.6",
"protein_id": "ENSP00000376293.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 959,
"cds_start": 233,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392505.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000409631.5",
"protein_id": "ENSP00000386885.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 898,
"cds_start": 233,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409631.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000357080.8",
"protein_id": "ENSP00000349591.4",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 508,
"cds_start": 233,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357080.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "NM_001201480.2",
"protein_id": "NP_001188409.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 959,
"cds_start": 233,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 10727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201480.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881566.1",
"protein_id": "ENSP00000551625.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 959,
"cds_start": 233,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881566.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000932936.1",
"protein_id": "ENSP00000602995.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 941,
"cds_start": 233,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932936.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.170T>C",
"hgvs_p": "p.Ile57Thr",
"transcript": "NM_145739.3",
"protein_id": "NP_665682.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 938,
"cds_start": 170,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 10273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145739.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.170T>C",
"hgvs_p": "p.Ile57Thr",
"transcript": "ENST00000315022.2",
"protein_id": "ENSP00000318723.2",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 938,
"cds_start": 170,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315022.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881569.1",
"protein_id": "ENSP00000551628.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881569.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881571.1",
"protein_id": "ENSP00000551630.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881571.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881572.1",
"protein_id": "ENSP00000551631.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881572.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881587.1",
"protein_id": "ENSP00000551646.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881587.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000932931.1",
"protein_id": "ENSP00000602990.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932931.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000932937.1",
"protein_id": "ENSP00000602996.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932937.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000946027.1",
"protein_id": "ENSP00000616086.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 934,
"cds_start": 233,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946027.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881579.1",
"protein_id": "ENSP00000551638.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 928,
"cds_start": 233,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881579.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881581.1",
"protein_id": "ENSP00000551640.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 928,
"cds_start": 233,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881581.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Ile47Thr",
"transcript": "ENST00000932932.1",
"protein_id": "ENSP00000602991.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 928,
"cds_start": 140,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 6951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932932.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881575.1",
"protein_id": "ENSP00000551634.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 923,
"cds_start": 233,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881575.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000881582.1",
"protein_id": "ENSP00000551641.1",
"transcript_support_level": null,
"aa_start": 78,
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"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001201480.2",
"gene_symbol": "OSBPL6",
"hgnc_id": 16388,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}