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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: 15-26560991-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=26560991&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 26560991,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000311550.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.1021A>C",
"hgvs_p": "p.Lys341Gln",
"transcript": "NM_000814.6",
"protein_id": "NP_000805.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": "ENST00000311550.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.1021A>C",
"hgvs_p": "p.Lys341Gln",
"transcript": "ENST00000311550.10",
"protein_id": "ENSP00000308725.5",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": "NM_000814.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.1189A>C",
"hgvs_p": "p.Lys397Gln",
"transcript": "ENST00000541819.6",
"protein_id": "ENSP00000442408.2",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 529,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 5934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.1021A>C",
"hgvs_p": "p.Lys341Gln",
"transcript": "ENST00000299267.9",
"protein_id": "ENSP00000299267.4",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.1021A>C",
"hgvs_p": "p.Lys341Gln",
"transcript": "NM_021912.5",
"protein_id": "NP_068712.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.922A>C",
"hgvs_p": "p.Lys308Gln",
"transcript": "ENST00000638099.1",
"protein_id": "ENSP00000490678.1",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 440,
"cds_start": 922,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Lys270Gln",
"transcript": "NM_001191321.3",
"protein_id": "NP_001178250.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 402,
"cds_start": 808,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Lys270Gln",
"transcript": "ENST00000400188.7",
"protein_id": "ENSP00000383049.3",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 402,
"cds_start": 808,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.766A>C",
"hgvs_p": "p.Lys256Gln",
"transcript": "NM_001191320.2",
"protein_id": "NP_001178249.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 388,
"cds_start": 766,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.766A>C",
"hgvs_p": "p.Lys256Gln",
"transcript": "NM_001278631.2",
"protein_id": "NP_001265560.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 388,
"cds_start": 766,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.766A>C",
"hgvs_p": "p.Lys256Gln",
"transcript": "ENST00000545868.4",
"protein_id": "ENSP00000439169.1",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 388,
"cds_start": 766,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.766A>C",
"hgvs_p": "p.Lys256Gln",
"transcript": "ENST00000636466.1",
"protein_id": "ENSP00000489768.1",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 388,
"cds_start": 766,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.844A>C",
"hgvs_p": "p.Lys282Gln",
"transcript": "XM_011521428.4",
"protein_id": "XP_011519730.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 414,
"cds_start": 844,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 5523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.933A>C",
"hgvs_p": null,
"transcript": "ENST00000555094.5",
"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": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.*853A>C",
"hgvs_p": null,
"transcript": "ENST00000555632.5",
"protein_id": "ENSP00000452041.1",
"transcript_support_level": 5,
"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": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.1064A>C",
"hgvs_p": null,
"transcript": "ENST00000635832.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.703A>C",
"hgvs_p": null,
"transcript": "ENST00000635994.1",
"protein_id": "ENSP00000489940.1",
"transcript_support_level": 5,
"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": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.*853A>C",
"hgvs_p": null,
"transcript": "ENST00000555632.5",
"protein_id": "ENSP00000452041.1",
"transcript_support_level": 5,
"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": 2109,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.*482A>C",
"hgvs_p": null,
"transcript": "ENST00000554556.5",
"protein_id": "ENSP00000451077.1",
"transcript_support_level": 5,
"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": 817,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.*132A>C",
"hgvs_p": null,
"transcript": "ENST00000557765.1",
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"dbsnp": "rs761102474",
"frequency_reference_population": 0.000023257659,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000232577,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7985174655914307,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.685,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1469,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.777,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000311550.10",
"gene_symbol": "GABRB3",
"hgnc_id": 4083,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1021A>C",
"hgvs_p": "p.Lys341Gln"
}
],
"clinvar_disease": " 1, 5, childhood absence, susceptibility to,Epilepsy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Epilepsy, childhood absence, susceptibility to, 1;Epilepsy, childhood absence, susceptibility to, 5",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}