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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: 17-28633627-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28633627&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28633627,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000528896.7",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.3387G>A",
"hgvs_p": "p.Trp1129*",
"transcript": "NM_014680.5",
"protein_id": "NP_055495.2",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 2235,
"cds_start": 3387,
"cds_end": null,
"cds_length": 6708,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 7428,
"mane_select": "ENST00000528896.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.3387G>A",
"hgvs_p": "p.Trp1129*",
"transcript": "ENST00000528896.7",
"protein_id": "ENSP00000436773.2",
"transcript_support_level": 1,
"aa_start": 1129,
"aa_end": null,
"aa_length": 2235,
"cds_start": 3387,
"cds_end": null,
"cds_length": 6708,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 7428,
"mane_select": "NM_014680.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.3387G>A",
"hgvs_p": "p.Trp1129*",
"transcript": "NM_001321560.2",
"protein_id": "NP_001308489.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 2234,
"cds_start": 3387,
"cds_end": null,
"cds_length": 6705,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.2958G>A",
"hgvs_p": "p.Trp986*",
"transcript": "NM_001363826.1",
"protein_id": "NP_001350755.1",
"transcript_support_level": null,
"aa_start": 986,
"aa_end": null,
"aa_length": 2092,
"cds_start": 2958,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 7287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.2958G>A",
"hgvs_p": "p.Trp986*",
"transcript": "ENST00000389003.7",
"protein_id": "ENSP00000467716.1",
"transcript_support_level": 5,
"aa_start": 986,
"aa_end": null,
"aa_length": 2092,
"cds_start": 2958,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 6852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.2382G>A",
"hgvs_p": "p.Trp794*",
"transcript": "NM_001363827.1",
"protein_id": "NP_001350756.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 1900,
"cds_start": 2382,
"cds_end": null,
"cds_length": 5703,
"cdna_start": 3356,
"cdna_end": null,
"cdna_length": 7301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.1362G>A",
"hgvs_p": "p.Trp454*",
"transcript": "NM_001363828.1",
"protein_id": "NP_001350757.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 1560,
"cds_start": 1362,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 7229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.1362G>A",
"hgvs_p": "p.Trp454*",
"transcript": "NM_001363829.1",
"protein_id": "NP_001350758.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 1559,
"cds_start": 1362,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 3720,
"cdna_end": null,
"cdna_length": 7662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Trp9*",
"transcript": "ENST00000577261.1",
"protein_id": "ENSP00000467944.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 286,
"cds_start": 27,
"cds_end": null,
"cds_length": 862,
"cdna_start": 27,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.3387G>A",
"hgvs_p": "p.Trp1129*",
"transcript": "XM_047437146.1",
"protein_id": "XP_047293102.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3387,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 3490,
"cdna_end": null,
"cdna_length": 4522,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264044",
"gene_hgnc_id": null,
"hgvs_c": "n.189+192C>T",
"hgvs_p": null,
"transcript": "ENST00000577814.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 1316,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264044",
"gene_hgnc_id": null,
"hgvs_c": "n.230+192C>T",
"hgvs_p": null,
"transcript": "ENST00000583787.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 552,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264044",
"gene_hgnc_id": null,
"hgvs_c": "n.187+192C>T",
"hgvs_p": null,
"transcript": "ENST00000841831.1",
"protein_id": null,
"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": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "n.-151G>A",
"hgvs_p": null,
"transcript": "ENST00000582417.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "n.*59G>A",
"hgvs_p": null,
"transcript": "ENST00000581064.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"dbsnp": "rs193920746",
"frequency_reference_population": 6.84104e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84104e-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": 0.550000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.509,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000528896.7",
"gene_symbol": "BLTP2",
"hgnc_id": 28960,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.3387G>A",
"hgvs_p": "p.Trp1129*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000577814.1",
"gene_symbol": "ENSG00000264044",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.189+192C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}