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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: 3-31670901-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=31670901&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 31670901,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000396556.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1809G>A",
"hgvs_p": "p.Pro603Pro",
"transcript": "NM_017784.5",
"protein_id": "NP_060254.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 764,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "ENST00000396556.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1809G>A",
"hgvs_p": "p.Pro603Pro",
"transcript": "ENST00000396556.7",
"protein_id": "ENSP00000379804.2",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 764,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "NM_017784.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1617G>A",
"hgvs_p": "p.Pro539Pro",
"transcript": "NM_001174060.2",
"protein_id": "NP_001167531.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 700,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1617G>A",
"hgvs_p": "p.Pro539Pro",
"transcript": "ENST00000438237.6",
"protein_id": "ENSP00000406124.2",
"transcript_support_level": 2,
"aa_start": 539,
"aa_end": null,
"aa_length": 700,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Pro371Pro",
"transcript": "ENST00000429492.6",
"protein_id": "ENSP00000416078.2",
"transcript_support_level": 2,
"aa_start": 371,
"aa_end": null,
"aa_length": 537,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 7723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1809G>A",
"hgvs_p": "p.Pro603Pro",
"transcript": "XM_005264843.5",
"protein_id": "XP_005264900.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 769,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1617G>A",
"hgvs_p": "p.Pro539Pro",
"transcript": "XM_005264844.6",
"protein_id": "XP_005264901.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 705,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1536G>A",
"hgvs_p": "p.Pro512Pro",
"transcript": "XM_047447385.1",
"protein_id": "XP_047303341.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 678,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1536G>A",
"hgvs_p": "p.Pro512Pro",
"transcript": "XM_047447386.1",
"protein_id": "XP_047303342.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 673,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Pro466Pro",
"transcript": "XM_047447387.1",
"protein_id": "XP_047303343.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 632,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1398G>A",
"hgvs_p": "p.Pro466Pro",
"transcript": "XM_047447388.1",
"protein_id": "XP_047303344.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 632,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Pro448Pro",
"transcript": "XM_047447389.1",
"protein_id": "XP_047303345.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 614,
"cds_start": 1344,
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"cds_length": 1845,
"cdna_start": 1633,
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"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Pro448Pro",
"transcript": "XM_047447390.1",
"protein_id": "XP_047303346.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 609,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1746,
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"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Pro430Pro",
"transcript": "XM_047447392.1",
"protein_id": "XP_047303348.1",
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"aa_start": 430,
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"cds_start": 1290,
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"cdna_start": 1554,
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"cdna_length": 3951,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Pro430Pro",
"transcript": "XM_047447393.1",
"protein_id": "XP_047303349.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 596,
"cds_start": 1290,
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"cdna_start": 1567,
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"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Pro430Pro",
"transcript": "XM_047447391.1",
"protein_id": "XP_047303347.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1290G>A",
"hgvs_p": "p.Pro430Pro",
"transcript": "XM_047447394.1",
"protein_id": "XP_047303350.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
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"cds_start": 1290,
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"cdna_start": 1567,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1206G>A",
"hgvs_p": "p.Pro402Pro",
"transcript": "XM_047447395.1",
"protein_id": "XP_047303351.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 563,
"cds_start": 1206,
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"cds_length": 1692,
"cdna_start": 1561,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Pro385Pro",
"transcript": "XM_017005670.3",
"protein_id": "XP_016861159.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Pro267Pro",
"transcript": "XM_005264845.2",
"protein_id": "XP_005264902.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 428,
"cds_start": 801,
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"cds_length": 1287,
"cdna_start": 1160,
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"cdna_length": 2893,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"dbsnp": "rs3749405",
"frequency_reference_population": 0.38349003,
"hom_count_reference_population": 127974,
"allele_count_reference_population": 618834,
"gnomad_exomes_af": 0.372418,
"gnomad_genomes_af": 0.489961,
"gnomad_exomes_ac": 544358,
"gnomad_genomes_ac": 74476,
"gnomad_exomes_homalt": 107046,
"gnomad_genomes_homalt": 20928,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04899999871850014,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.327,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000396556.7",
"gene_symbol": "OSBPL10",
"hgnc_id": 16395,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1809G>A",
"hgvs_p": "p.Pro603Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}