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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: 2-158533250-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=158533250&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PKP4",
"hgnc_id": 9026,
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -18,
"transcript": "NM_003628.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_score": -18,
"allele_count_reference_population": 92130,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3400000035762787,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 338,
"cds_end": null,
"cds_length": 3579,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_003628.6",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389759.8",
"protein_coding": true,
"protein_id": "NP_003619.2",
"strand": true,
"transcript": "NM_003628.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 338,
"cds_end": null,
"cds_length": 3579,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000389759.8",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003628.6",
"protein_coding": true,
"protein_id": "ENSP00000374409.3",
"strand": true,
"transcript": "ENST00000389759.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 191,
"cds_end": null,
"cds_length": 3450,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000389757.7",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374407.3",
"strand": true,
"transcript": "ENST00000389757.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000426248.7",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "n.66C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396827.2",
"strand": true,
"transcript": "ENST00000426248.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000452162.5",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "n.66C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407218.1",
"strand": true,
"transcript": "ENST00000452162.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4751,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3579,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001377218.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364147.1",
"strand": true,
"transcript": "NM_001377218.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5243,
"cdna_start": 978,
"cds_end": null,
"cds_length": 3579,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866379.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536438.1",
"strand": true,
"transcript": "ENST00000866379.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 304,
"cds_end": null,
"cds_length": 3579,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866381.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536440.1",
"strand": true,
"transcript": "ENST00000866381.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4600,
"cdna_start": 338,
"cds_end": null,
"cds_length": 3576,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001304969.3",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291898.1",
"strand": true,
"transcript": "NM_001304969.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4748,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3576,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001377219.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364148.1",
"strand": true,
"transcript": "NM_001377219.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5842,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 3576,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001377220.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364149.1",
"strand": true,
"transcript": "NM_001377220.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5420,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 3576,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001377221.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364150.1",
"strand": true,
"transcript": "NM_001377221.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 913,
"cds_end": null,
"cds_length": 3576,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866378.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536437.1",
"strand": true,
"transcript": "ENST00000866378.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4652,
"cdna_start": 390,
"cds_end": null,
"cds_length": 3576,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930825.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600884.1",
"strand": true,
"transcript": "ENST00000930825.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": 338,
"cds_end": null,
"cds_length": 3573,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001377222.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364151.1",
"strand": true,
"transcript": "NM_001377222.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4745,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3573,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001377223.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364152.1",
"strand": true,
"transcript": "NM_001377223.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 382,
"cds_end": null,
"cds_length": 3573,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866374.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536433.1",
"strand": true,
"transcript": "ENST00000866374.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5232,
"cdna_start": 978,
"cds_end": null,
"cds_length": 3573,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866380.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536439.1",
"strand": true,
"transcript": "ENST00000866380.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 338,
"cds_end": null,
"cds_length": 3570,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001377224.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364153.1",
"strand": true,
"transcript": "NM_001377224.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 362,
"cds_end": null,
"cds_length": 3570,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866375.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536434.1",
"strand": true,
"transcript": "ENST00000866375.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "A",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5300,
"cdna_start": 933,
"cds_end": null,
"cds_length": 3570,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866377.1",
"gene_hgnc_id": 9026,
"gene_symbol": "PKP4",
"hgvs_c": "c.66C>T",
"hgvs_p": "p.Ala22Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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