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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: 3-31785275-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=31785275&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 31785275,
"ref": "A",
"alt": "G",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.730-37155T>C",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.730-37155T>C",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.538-37155T>C",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.538-37155T>C",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.34-37155T>C",
"hgvs_p": null,
"transcript": "ENST00000429492.6",
"protein_id": "ENSP00000416078.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7723,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.730-37155T>C",
"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": true,
"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": "c.118-37155T>C",
"hgvs_p": null,
"transcript": "ENST00000673388.1",
"protein_id": "ENSP00000500118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1114,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.153+12480T>C",
"hgvs_p": null,
"transcript": "ENST00000428241.1",
"protein_id": "ENSP00000399200.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 519,
"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.142-37155T>C",
"hgvs_p": null,
"transcript": "ENST00000467647.1",
"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": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.563-37155T>C",
"hgvs_p": null,
"transcript": "ENST00000467955.5",
"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,
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"cdna_length": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.305-37155T>C",
"hgvs_p": null,
"transcript": "ENST00000480671.5",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "OSBPL10",
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"hgvs_c": "n.422-37155T>C",
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"transcript": "ENST00000485205.5",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.730-37155T>C",
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"transcript": "XM_005264843.5",
"protein_id": "XP_005264900.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.538-37155T>C",
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"transcript": "XM_005264844.6",
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},
{
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],
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},
{
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],
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.457-37155T>C",
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},
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],
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"gene_symbol": "OSBPL10",
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"transcript": "XM_047447387.1",
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},
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"consequences": [
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],
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.319-37155T>C",
"hgvs_p": null,
"transcript": "XM_047447388.1",
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},
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.265-37155T>C",
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},
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],
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},
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],
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"intron_rank": 3,
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.211-37155T>C",
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"transcript": "XM_047447393.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
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"hgvs_c": "c.211-37155T>C",
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"protein_id": "XP_047303347.1",
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},
{
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},
{
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},
{
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}
],
"gene_symbol": "OSBPL10",
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"gnomad_genomes_af": 0.758154,
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"gnomad_genomes_ac": 115391,
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"gnomad_genomes_homalt": 44018,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.502,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000396556.7",
"gene_symbol": "OSBPL10",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.730-37155T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}