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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: 3-31940275-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=31940275&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 31940275,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000396556.7",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.281+40624A>G",
"hgvs_p": null,
"transcript": "NM_017784.5",
"protein_id": "NP_060254.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "ENST00000396556.7",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.281+40624A>G",
"hgvs_p": null,
"transcript": "ENST00000396556.7",
"protein_id": "ENSP00000379804.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "NM_017784.5",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.281+40624A>G",
"hgvs_p": null,
"transcript": "NM_001174060.2",
"protein_id": "NP_001167531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3433,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.281+40624A>G",
"hgvs_p": null,
"transcript": "ENST00000438237.6",
"protein_id": "ENSP00000406124.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2624,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.281+40624A>G",
"hgvs_p": null,
"transcript": "ENST00000698199.1",
"protein_id": "ENSP00000513603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.407+40624A>G",
"hgvs_p": null,
"transcript": "ENST00000452791.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.153+29128A>G",
"hgvs_p": null,
"transcript": "ENST00000463504.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.48+40624A>G",
"hgvs_p": null,
"transcript": "ENST00000465626.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.194+19868A>G",
"hgvs_p": null,
"transcript": "ENST00000466604.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.299-60445A>G",
"hgvs_p": null,
"transcript": "ENST00000479173.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.48+40624A>G",
"hgvs_p": null,
"transcript": "ENST00000480671.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.281+40624A>G",
"hgvs_p": null,
"transcript": "XM_005264843.5",
"protein_id": "XP_005264900.1",
"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,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.281+40624A>G",
"hgvs_p": null,
"transcript": "XM_005264844.6",
"protein_id": "XP_005264901.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.9-60445A>G",
"hgvs_p": null,
"transcript": "XM_047447385.1",
"protein_id": "XP_047303341.1",
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},
{
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"strand": false,
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"intron_variant"
],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.9-60445A>G",
"hgvs_p": null,
"transcript": "XM_047447386.1",
"protein_id": "XP_047303342.1",
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.-131+30644A>G",
"hgvs_p": null,
"transcript": "XM_047447388.1",
"protein_id": "XP_047303344.1",
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},
{
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],
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.9-60445A>G",
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"transcript": "XM_047447389.1",
"protein_id": "XP_047303345.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.9-60445A>G",
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"transcript": "XM_047447390.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 11,
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.-63+40624A>G",
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"transcript": "XM_047447391.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.-131+19868A>G",
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"transcript": "XM_047447395.1",
"protein_id": "XP_047303351.1",
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}
],
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"dbsnp": "rs12630931",
"frequency_reference_population": 0.21084337,
"hom_count_reference_population": 3922,
"allele_count_reference_population": 32095,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.210843,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 32095,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3922,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.62,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000396556.7",
"gene_symbol": "OSBPL10",
"hgnc_id": 16395,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.281+40624A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}