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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: 12-56080359-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56080359&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56080359,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000267101.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Ser20Tyr",
"transcript": "NM_001982.4",
"protein_id": "NP_001973.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1342,
"cds_start": 59,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 5615,
"mane_select": "ENST00000267101.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Ser20Tyr",
"transcript": "ENST00000267101.8",
"protein_id": "ENSP00000267101.4",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 1342,
"cds_start": 59,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 5615,
"mane_select": "NM_001982.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Ser20Tyr",
"transcript": "ENST00000411731.6",
"protein_id": "ENSP00000415753.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 183,
"cds_start": 59,
"cds_end": null,
"cds_length": 552,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 1027,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.59C>A",
"hgvs_p": null,
"transcript": "ENST00000551242.5",
"protein_id": "ENSP00000447510.1",
"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": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Ser20Tyr",
"transcript": "NM_001005915.1",
"protein_id": "NP_001005915.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 183,
"cds_start": 59,
"cds_end": null,
"cds_length": 552,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Ser20Tyr",
"transcript": "ENST00000549282.5",
"protein_id": "ENSP00000448636.1",
"transcript_support_level": 4,
"aa_start": 20,
"aa_end": null,
"aa_length": 125,
"cds_start": 59,
"cds_end": null,
"cds_length": 379,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 561,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.156C>A",
"hgvs_p": null,
"transcript": "ENST00000546884.1",
"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": 660,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.221C>A",
"hgvs_p": null,
"transcript": "ENST00000549672.6",
"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": 1207,
"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": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.59C>A",
"hgvs_p": null,
"transcript": "ENST00000551085.5",
"protein_id": "ENSP00000448483.1",
"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": 4382,
"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": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.218C>A",
"hgvs_p": null,
"transcript": "ENST00000682431.1",
"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": 6264,
"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": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.13C>A",
"hgvs_p": null,
"transcript": "ENST00000683653.1",
"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": 5511,
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.188C>A",
"hgvs_p": null,
"transcript": "ENST00000684500.1",
"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": 5819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.-119C>A",
"hgvs_p": null,
"transcript": "ENST00000549061.5",
"protein_id": "ENSP00000449138.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.-96+425C>A",
"hgvs_p": null,
"transcript": "ENST00000683059.1",
"protein_id": "ENSP00000507402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1283,
"cds_start": -4,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5439,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.-95-3392C>A",
"hgvs_p": null,
"transcript": "ENST00000643266.1",
"protein_id": "ENSP00000495453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 18,
"cds_start": -4,
"cds_end": null,
"cds_length": 57,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 237,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.24+35C>A",
"hgvs_p": null,
"transcript": "ENST00000550869.5",
"protein_id": "ENSP00000448671.1",
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"dbsnp": "rs34379766",
"frequency_reference_population": 0.0000025089444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000208034,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28898361325263977,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.213,
"revel_prediction": "Benign",
"alphamissense_score": 0.1164,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.528,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000267101.8",
"gene_symbol": "ERBB3",
"hgnc_id": 3431,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.59C>A",
"hgvs_p": "p.Ser20Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}