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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: 20-37519170-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37519170&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 37519170,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000373537.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "NM_006698.4",
"protein_id": "NP_006689.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": "ENST00000373537.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000373537.7",
"protein_id": "ENSP00000362637.2",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": "NM_006698.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000397137.5",
"protein_id": "ENSP00000380326.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "NM_001167820.2",
"protein_id": "NP_001161292.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "NM_001167821.2",
"protein_id": "NP_001161293.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "NM_001167822.3",
"protein_id": "NP_001161294.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "NM_001167823.2",
"protein_id": "NP_001161295.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "NM_001317074.2",
"protein_id": "NP_001304003.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "NM_001317075.2",
"protein_id": "NP_001304004.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000397131.1",
"protein_id": "ENSP00000380320.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000397134.1",
"protein_id": "ENSP00000380323.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000397135.1",
"protein_id": "ENSP00000380324.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000414542.6",
"protein_id": "ENSP00000397172.2",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 87,
"cds_start": 5,
"cds_end": null,
"cds_length": 264,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000432507.1",
"protein_id": "ENSP00000414973.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 86,
"cds_start": 5,
"cds_end": null,
"cds_length": 263,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000445723.5",
"protein_id": "ENSP00000405953.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 77,
"cds_start": 5,
"cds_end": null,
"cds_length": 235,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000414080.1",
"protein_id": "ENSP00000391768.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 61,
"cds_start": 5,
"cds_end": null,
"cds_length": 186,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"transcript": "ENST00000456058.1",
"protein_id": "ENSP00000389735.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 6,
"cds_start": 5,
"cds_end": null,
"cds_length": 21,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"hgvs_c": "n.189+62A>G",
"hgvs_p": null,
"transcript": "ENST00000467603.1",
"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": 439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BLCAP",
"gene_hgnc_id": 1055,
"dbsnp": "rs11557677",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8951332569122314,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.584,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9704,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.811,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000373537.7",
"gene_symbol": "BLCAP",
"hgnc_id": 1055,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}