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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: 11-116835831-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116835831&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APOA1",
"hgnc_id": 600,
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000039.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0599,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.02990555763244629,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": 819,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000039.3",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000236850.5",
"protein_coding": true,
"protein_id": "NP_000030.1",
"strand": false,
"transcript": "NM_000039.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": 819,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000236850.5",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000039.3",
"protein_coding": true,
"protein_id": "ENSP00000236850.3",
"strand": false,
"transcript": "ENST00000236850.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375323.5",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364472.1",
"strand": false,
"transcript": "ENST00000375323.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 278,
"aa_ref": "T",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 930,
"cdna_start": 852,
"cds_end": null,
"cds_length": 837,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855312.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.814A>T",
"hgvs_p": "p.Thr272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525371.1",
"strand": false,
"transcript": "ENST00000855312.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 976,
"cdna_start": 896,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318017.2",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304946.1",
"strand": false,
"transcript": "NM_001318017.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 865,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318018.2",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304947.1",
"strand": false,
"transcript": "NM_001318018.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 905,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001425090.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412019.1",
"strand": false,
"transcript": "NM_001425090.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": 852,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000359492.6",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352471.2",
"strand": false,
"transcript": "ENST00000359492.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 940,
"cdna_start": 860,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000375320.5",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364469.1",
"strand": false,
"transcript": "ENST00000375320.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1007,
"cdna_start": 930,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855297.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525356.1",
"strand": false,
"transcript": "ENST00000855297.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1109,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855298.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525357.1",
"strand": false,
"transcript": "ENST00000855298.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 997,
"cdna_start": 919,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855299.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525358.1",
"strand": false,
"transcript": "ENST00000855299.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 989,
"cdna_start": 911,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855300.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525359.1",
"strand": false,
"transcript": "ENST00000855300.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 921,
"cdna_start": 843,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855304.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525363.1",
"strand": false,
"transcript": "ENST00000855304.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 961,
"cdna_start": 883,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855308.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525367.1",
"strand": false,
"transcript": "ENST00000855308.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": 800,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855310.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525369.1",
"strand": false,
"transcript": "ENST00000855310.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 965,
"cdna_start": 887,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855311.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525370.1",
"strand": false,
"transcript": "ENST00000855311.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": 819,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855315.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525374.1",
"strand": false,
"transcript": "ENST00000855315.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 931,
"cdna_start": 854,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855318.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525377.1",
"strand": false,
"transcript": "ENST00000855318.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 995,
"cdna_start": 917,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855320.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525379.1",
"strand": false,
"transcript": "ENST00000855320.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 973,
"cdna_start": 896,
"cds_end": null,
"cds_length": 804,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855321.1",
"gene_hgnc_id": 600,
"gene_symbol": "APOA1",
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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