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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: 11-116832816-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116832816&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APOC3",
"hgnc_id": 610,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"inheritance_mode": "AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_000040.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong,PP5",
"acmg_score": 8,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2644,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "11",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Apolipoprotein c-III deficiency",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9689061045646667,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 535,
"cdna_start": 279,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000040.3",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000227667.8",
"protein_coding": true,
"protein_id": "NP_000031.1",
"strand": true,
"transcript": "NM_000040.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 535,
"cdna_start": 279,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000227667.8",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000040.3",
"protein_coding": true,
"protein_id": "ENSP00000227667.2",
"strand": true,
"transcript": "ENST00000227667.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 117,
"aa_ref": "K",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 541,
"cdna_start": 286,
"cds_end": null,
"cds_length": 354,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000630701.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Lys96Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486182.1",
"strand": true,
"transcript": "ENST00000630701.1",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 118,
"aa_ref": "K",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 587,
"cdna_start": 335,
"cds_end": null,
"cds_length": 357,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863804.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.289A>G",
"hgvs_p": "p.Lys97Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533863.1",
"strand": true,
"transcript": "ENST00000863804.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 117,
"aa_ref": "K",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 604,
"cdna_start": 348,
"cds_end": null,
"cds_length": 354,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000375345.3",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.286A>G",
"hgvs_p": "p.Lys96Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364494.1",
"strand": true,
"transcript": "ENST00000375345.3",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": 431,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863784.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533843.1",
"strand": true,
"transcript": "ENST00000863784.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 609,
"cdna_start": 358,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863785.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533844.1",
"strand": true,
"transcript": "ENST00000863785.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 921,
"cdna_start": 667,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863786.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533845.1",
"strand": true,
"transcript": "ENST00000863786.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": 931,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863787.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533846.1",
"strand": true,
"transcript": "ENST00000863787.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": 804,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863788.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533847.1",
"strand": true,
"transcript": "ENST00000863788.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863789.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533848.1",
"strand": true,
"transcript": "ENST00000863789.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": 988,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863790.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533849.1",
"strand": true,
"transcript": "ENST00000863790.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1082,
"cdna_start": 828,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863791.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533850.1",
"strand": true,
"transcript": "ENST00000863791.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 533,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863792.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533851.1",
"strand": true,
"transcript": "ENST00000863792.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": 407,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863793.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533852.1",
"strand": true,
"transcript": "ENST00000863793.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 702,
"cdna_start": 434,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863794.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533853.1",
"strand": true,
"transcript": "ENST00000863794.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 677,
"cdna_start": 418,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863795.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533854.1",
"strand": true,
"transcript": "ENST00000863795.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": 298,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863796.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533855.1",
"strand": true,
"transcript": "ENST00000863796.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": 685,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863798.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533857.1",
"strand": true,
"transcript": "ENST00000863798.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 639,
"cdna_start": 384,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863801.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533860.1",
"strand": true,
"transcript": "ENST00000863801.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 99,
"aa_ref": "K",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 919,
"cdna_start": 664,
"cds_end": null,
"cds_length": 300,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863802.1",
"gene_hgnc_id": 610,
"gene_symbol": "APOC3",
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Lys78Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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