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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: 19-36997597-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36997597&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36997597,
"ref": "T",
"alt": "A",
"effect": "stop_lost",
"transcript": "ENST00000706165.1",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.1906T>A",
"hgvs_p": "p.Ter636Argext*?",
"transcript": "ENST00000444991.6",
"protein_id": "ENSP00000389794.2",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 635,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 9868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291239",
"gene_hgnc_id": null,
"hgvs_c": "c.1906T>A",
"hgvs_p": "p.Ter636Argext*?",
"transcript": "ENST00000706165.1",
"protein_id": "ENSP00000516244.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 635,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "n.2075T>A",
"hgvs_p": null,
"transcript": "ENST00000591887.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.1906T>A",
"hgvs_p": "p.Ter636Argext*?",
"transcript": "NM_001204838.2",
"protein_id": "NP_001191767.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 635,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.1714T>A",
"hgvs_p": "p.Ter572Argext*?",
"transcript": "NM_001204839.2",
"protein_id": "NP_001191768.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 571,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.1714T>A",
"hgvs_p": "p.Ter572Argext*?",
"transcript": "ENST00000455427.7",
"protein_id": "ENSP00000413396.2",
"transcript_support_level": 2,
"aa_start": 572,
"aa_end": null,
"aa_length": 571,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.1510T>A",
"hgvs_p": "p.Ter504Argext*?",
"transcript": "ENST00000433993.6",
"protein_id": "ENSP00000399643.2",
"transcript_support_level": 4,
"aa_start": 504,
"aa_end": null,
"aa_length": 503,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.1411T>A",
"hgvs_p": "p.Ter471Argext*?",
"transcript": "ENST00000706173.1",
"protein_id": "ENSP00000516252.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 470,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.1906T>A",
"hgvs_p": "p.Ter636Argext*?",
"transcript": "XM_017026772.2",
"protein_id": "XP_016882261.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 635,
"cds_start": 1906,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.676+1038T>A",
"hgvs_p": null,
"transcript": "ENST00000706169.1",
"protein_id": "ENSP00000516248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "c.472+1038T>A",
"hgvs_p": null,
"transcript": "ENST00000706172.1",
"protein_id": "ENSP00000516251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF568",
"gene_hgnc_id": 25392,
"hgvs_c": "n.*475+1038T>A",
"hgvs_p": null,
"transcript": "ENST00000706171.1",
"protein_id": "ENSP00000516250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENSG00000291239",
"gene_hgnc_id": null,
"dbsnp": "rs1667366",
"frequency_reference_population": 7.099469e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.09947e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.786,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000706165.1",
"gene_symbol": "ENSG00000291239",
"hgnc_id": null,
"effects": [
"stop_lost"
],
"inheritance_mode": "",
"hgvs_c": "c.1906T>A",
"hgvs_p": "p.Ter636Argext*?"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001204838.2",
"gene_symbol": "ZNF568",
"hgnc_id": 25392,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1906T>A",
"hgvs_p": "p.Ter636Argext*?"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}