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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: 20-62256214-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62256214&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62256214,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000313733.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "NM_144498.4",
"protein_id": "NP_653081.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 480,
"cds_start": 30,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": "ENST00000313733.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000313733.9",
"protein_id": "ENSP00000316649.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 480,
"cds_start": 30,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": "NM_144498.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000358053.3",
"protein_id": "ENSP00000350755.2",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 468,
"cds_start": 30,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-27C>T",
"hgvs_p": null,
"transcript": "ENST00000644775.1",
"protein_id": "ENSP00000495955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": -4,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-337C>T",
"hgvs_p": null,
"transcript": "NM_001363878.2",
"protein_id": "NP_001350807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-192C>T",
"hgvs_p": null,
"transcript": "NM_001278649.3",
"protein_id": "NP_001265578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-247C>T",
"hgvs_p": null,
"transcript": "ENST00000439951.6",
"protein_id": "ENSP00000397602.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.-192C>T",
"hgvs_p": null,
"transcript": "ENST00000645520.1",
"protein_id": "ENSP00000495166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000643412.1",
"protein_id": "ENSP00000494549.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 480,
"cds_start": 30,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000643981.1",
"protein_id": "ENSP00000495379.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 480,
"cds_start": 30,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "NM_014835.5",
"protein_id": "NP_055650.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 468,
"cds_start": 30,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000644189.1",
"protein_id": "ENSP00000495359.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 291,
"cds_start": 30,
"cds_end": null,
"cds_length": 876,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000622332.4",
"protein_id": "ENSP00000478158.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 179,
"cds_start": 30,
"cds_end": null,
"cds_length": 540,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000642957.1",
"protein_id": "ENSP00000495661.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 162,
"cds_start": 30,
"cds_end": null,
"cds_length": 491,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Ala10Ala",
"transcript": "ENST00000618509.4",
"protein_id": "ENSP00000479702.1",
"transcript_support_level": 4,
"aa_start": 10,
"aa_end": null,
"aa_length": 21,
"cds_start": 30,
"cds_end": null,
"cds_length": 68,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000642516.1",
"protein_id": "ENSP00000494756.1",
"transcript_support_level": null,
"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": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000642932.1",
"protein_id": "ENSP00000495393.1",
"transcript_support_level": null,
"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": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000643174.1",
"protein_id": "ENSP00000493721.1",
"transcript_support_level": null,
"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": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000644535.1",
"protein_id": "ENSP00000495676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000645426.1",
"protein_id": "ENSP00000495812.1",
"transcript_support_level": null,
"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": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.192C>T",
"hgvs_p": null,
"transcript": "ENST00000645594.1",
"protein_id": null,
"transcript_support_level": null,
"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": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000646834.1",
"protein_id": "ENSP00000494692.1",
"transcript_support_level": null,
"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": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL2",
"gene_hgnc_id": 15761,
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"transcript": "ENST00000646968.1",
"protein_id": "ENSP00000495611.1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.21,
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"phylop100way_prediction": "Benign",
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{
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"BP7",
"BS2"
],
"verdict": "Benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}