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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: 11-102350366-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=102350366&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BIRC2",
"hgnc_id": 590,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001166.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.0631,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.071454256772995,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001166.5",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000227758.7",
"protein_coding": true,
"protein_id": "NP_001157.1",
"strand": true,
"transcript": "NM_001166.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000227758.7",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001166.5",
"protein_coding": true,
"protein_id": "ENSP00000227758.2",
"strand": true,
"transcript": "ENST00000227758.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 2241,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000613397.4",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477613.1",
"strand": true,
"transcript": "ENST00000613397.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000527910.5",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "n.2241C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000527910.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 622,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1869,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866598.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536657.1",
"strand": true,
"transcript": "ENST00000866598.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4073,
"cdna_start": 2241,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001256163.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243092.1",
"strand": true,
"transcript": "NM_001256163.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5001,
"cdna_start": 3159,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000866596.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536655.1",
"strand": true,
"transcript": "ENST00000866596.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4053,
"cdna_start": 2228,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866599.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536658.1",
"strand": true,
"transcript": "ENST00000866599.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866600.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536659.1",
"strand": true,
"transcript": "ENST00000866600.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866601.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536660.1",
"strand": true,
"transcript": "ENST00000866601.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922855.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592914.1",
"strand": true,
"transcript": "ENST00000922855.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 1857,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948252.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618311.1",
"strand": true,
"transcript": "ENST00000948252.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1794,
"cds_start": 449,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532672.5",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ser150Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434979.1",
"strand": true,
"transcript": "ENST00000532672.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 569,
"aa_ref": "S",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1710,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001256166.2",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Ser122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243095.1",
"strand": true,
"transcript": "NM_001256166.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 569,
"aa_ref": "S",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1710,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530675.5",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Ser122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431723.1",
"strand": true,
"transcript": "ENST00000530675.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 557,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 1674,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000866597.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536656.1",
"strand": true,
"transcript": "ENST00000866597.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 537,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 1614,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922854.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ser171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592913.1",
"strand": true,
"transcript": "ENST00000922854.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 78,
"aa_ref": "S",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 505,
"cdna_start": 306,
"cds_end": null,
"cds_length": 237,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532832.5",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.38C>T",
"hgvs_p": "p.Ser13Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432410.1",
"strand": true,
"transcript": "ENST00000532832.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": null,
"cds_end": null,
"cds_length": 548,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533742.5",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.-20+2990C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433851.1",
"strand": true,
"transcript": "ENST00000533742.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 138,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": 419,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531259.5",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "c.-30+2990C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436741.1",
"strand": true,
"transcript": "ENST00000531259.5",
"transcript_support_level": 5
},
{
"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": 866,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000528344.1",
"gene_hgnc_id": 590,
"gene_symbol": "BIRC2",
"hgvs_c": "n.392C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434557.1",
"strand": true,
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}