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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: 19-44948822-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44948822&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "APOC2",
"hgnc_id": 609,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"inheritance_mode": "AR,SD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_000483.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "APOC4-APOC2",
"hgnc_id": 44426,
"hgvs_c": "c.408C>A",
"hgvs_p": "p.Tyr136*",
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000589057.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "19",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "APOLIPOPROTEIN C-II (PADOVA),Familial apolipoprotein C-II deficiency,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.029999999329447746,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 660,
"cdna_start": 215,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000483.5",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252490.7",
"protein_coding": true,
"protein_id": "NP_000474.2",
"strand": true,
"transcript": "NM_000483.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 660,
"cdna_start": 215,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000252490.7",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000483.5",
"protein_coding": true,
"protein_id": "ENSP00000252490.5",
"strand": true,
"transcript": "ENST00000252490.7",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 178,
"aa_ref": "Y",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 680,
"cdna_start": 430,
"cds_end": null,
"cds_length": 537,
"cds_start": 408,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000589057.5",
"gene_hgnc_id": 44426,
"gene_symbol": "APOC4-APOC2",
"hgvs_c": "c.408C>A",
"hgvs_p": "p.Tyr136*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468139.1",
"strand": true,
"transcript": "ENST00000589057.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 116,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 703,
"cdna_start": 215,
"cds_end": null,
"cds_length": 351,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896555.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566614.1",
"strand": true,
"transcript": "ENST00000896555.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 113,
"aa_ref": "Y",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1053,
"cdna_start": 593,
"cds_end": null,
"cds_length": 342,
"cds_start": 213,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896546.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.213C>A",
"hgvs_p": "p.Tyr71*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566605.1",
"strand": true,
"transcript": "ENST00000896546.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 113,
"aa_ref": "Y",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": 410,
"cds_end": null,
"cds_length": 342,
"cds_start": 213,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896548.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.213C>A",
"hgvs_p": "p.Tyr71*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566607.1",
"strand": true,
"transcript": "ENST00000896548.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 113,
"aa_ref": "Y",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": 524,
"cds_end": null,
"cds_length": 342,
"cds_start": 213,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896558.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.213C>A",
"hgvs_p": "p.Tyr71*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566617.1",
"strand": true,
"transcript": "ENST00000896558.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 113,
"aa_ref": "Y",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 972,
"cdna_start": 716,
"cds_end": null,
"cds_length": 342,
"cds_start": 213,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896559.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.213C>A",
"hgvs_p": "p.Tyr71*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566618.1",
"strand": true,
"transcript": "ENST00000896559.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 744,
"cdna_start": 299,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000590360.2",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466775.1",
"strand": true,
"transcript": "ENST00000590360.2",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896547.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566606.1",
"strand": true,
"transcript": "ENST00000896547.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 460,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896549.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566608.1",
"strand": true,
"transcript": "ENST00000896549.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 743,
"cdna_start": 300,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896553.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566612.1",
"strand": true,
"transcript": "ENST00000896553.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": 210,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896554.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566613.1",
"strand": true,
"transcript": "ENST00000896554.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 768,
"cdna_start": 512,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896557.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566616.1",
"strand": true,
"transcript": "ENST00000896557.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 506,
"cdna_start": 250,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896560.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566619.1",
"strand": true,
"transcript": "ENST00000896560.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 320,
"cds_end": null,
"cds_length": 306,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000968228.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638287.1",
"strand": true,
"transcript": "ENST00000968228.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 97,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": 231,
"cds_end": null,
"cds_length": 294,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896550.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566609.1",
"strand": true,
"transcript": "ENST00000896550.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 72,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 880,
"cdna_start": 370,
"cds_end": null,
"cds_length": 219,
"cds_start": 177,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000585786.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Tyr59*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465001.1",
"strand": true,
"transcript": "ENST00000585786.1",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 47,
"aa_ref": "R",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 444,
"cdna_start": 169,
"cds_end": null,
"cds_length": 144,
"cds_start": 115,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000592257.5",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.115C>A",
"hgvs_p": "p.Arg39Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477261.1",
"strand": true,
"transcript": "ENST00000592257.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 99,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 652,
"cdna_start": null,
"cds_end": null,
"cds_length": 300,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896551.1",
"gene_hgnc_id": 609,
"gene_symbol": "APOC2",
"hgvs_c": "c.209+4C>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566610.1",
"strand": true,
"transcript": "ENST00000896551.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 87,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 447,
"cdna_start": null,
"cds_end": null,
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]
}