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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: 3-31664114-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=31664114&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OSBPL10",
"hgnc_id": 16395,
"hgvs_c": "c.2215C>T",
"hgvs_p": "p.Arg739Cys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_017784.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0687,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1313174068927765,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 764,
"aa_ref": "R",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2215,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_017784.5",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.2215C>T",
"hgvs_p": "p.Arg739Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396556.7",
"protein_coding": true,
"protein_id": "NP_060254.2",
"strand": false,
"transcript": "NM_017784.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 764,
"aa_ref": "R",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2215,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396556.7",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.2215C>T",
"hgvs_p": "p.Arg739Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017784.5",
"protein_coding": true,
"protein_id": "ENSP00000379804.2",
"strand": false,
"transcript": "ENST00000396556.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 729,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959571.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.2110C>T",
"hgvs_p": "p.Arg704Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629630.1",
"strand": false,
"transcript": "ENST00000959571.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 714,
"aa_ref": "R",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 2145,
"cds_start": 2065,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911816.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.Arg689Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581875.1",
"strand": false,
"transcript": "ENST00000911816.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 700,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3433,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2103,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001174060.2",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.2023C>T",
"hgvs_p": "p.Arg675Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167531.1",
"strand": false,
"transcript": "NM_001174060.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 700,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 2103,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000438237.6",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.2023C>T",
"hgvs_p": "p.Arg675Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406124.2",
"strand": false,
"transcript": "ENST00000438237.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6431,
"cdna_start": 2167,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1699,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911815.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1699C>T",
"hgvs_p": "p.Arg567Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581874.1",
"strand": false,
"transcript": "ENST00000911815.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1594,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000959572.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629631.1",
"strand": false,
"transcript": "ENST00000959572.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7723,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000429492.6",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Arg507Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416078.2",
"strand": false,
"transcript": "ENST00000429492.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 769,
"aa_ref": "R",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4289,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2215,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005264843.5",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.2215C>T",
"hgvs_p": "p.Arg739Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264900.1",
"strand": false,
"transcript": "XM_005264843.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4097,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2118,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005264844.6",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.2023C>T",
"hgvs_p": "p.Arg675Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264901.1",
"strand": false,
"transcript": "XM_005264844.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 678,
"aa_ref": "R",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1942,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047447385.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303341.1",
"strand": false,
"transcript": "XM_047447385.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1942,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047447386.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Arg648Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303342.1",
"strand": false,
"transcript": "XM_047447386.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1804,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047447387.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1804C>T",
"hgvs_p": "p.Arg602Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303343.1",
"strand": false,
"transcript": "XM_047447387.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 632,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1804,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047447388.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1804C>T",
"hgvs_p": "p.Arg602Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303344.1",
"strand": false,
"transcript": "XM_047447388.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1750,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047447389.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303345.1",
"strand": false,
"transcript": "XM_047447389.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 609,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 2152,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1750,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047447390.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303346.1",
"strand": false,
"transcript": "XM_047447390.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047447392.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1696C>T",
"hgvs_p": "p.Arg566Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303348.1",
"strand": false,
"transcript": "XM_047447392.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3964,
"cdna_start": 1973,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047447393.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1696C>T",
"hgvs_p": "p.Arg566Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303349.1",
"strand": false,
"transcript": "XM_047447393.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 591,
"aa_ref": "R",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047447391.1",
"gene_hgnc_id": 16395,
"gene_symbol": "OSBPL10",
"hgvs_c": "c.1696C>T",
"hgvs_p": "p.Arg566Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303347.1",
"strand": false,
"transcript": "XM_047447391.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 1973,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1696,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
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