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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: 9-128694007-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128694007&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128694007,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "ENST00000322030.13",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.777dupA",
"hgvs_p": "p.Asp260fs",
"transcript": "NM_003011.4",
"protein_id": "NP_003002.2",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 277,
"cds_start": 778,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": "ENST00000322030.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.777dupA",
"hgvs_p": "p.Asp260fs",
"transcript": "ENST00000322030.13",
"protein_id": "ENSP00000318012.9",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 277,
"cds_start": 778,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": "NM_003011.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.816dupA",
"hgvs_p": "p.Asp273fs",
"transcript": "ENST00000372692.8",
"protein_id": "ENSP00000361777.4",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 290,
"cds_start": 817,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.777dupA",
"hgvs_p": "p.Asp260fs",
"transcript": "ENST00000372688.9",
"protein_id": "ENSP00000361773.5",
"transcript_support_level": 2,
"aa_start": 260,
"aa_end": null,
"aa_length": 296,
"cds_start": 778,
"cds_end": null,
"cds_length": 891,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.816dupA",
"hgvs_p": "p.Asp273fs",
"transcript": "NM_001122821.2",
"protein_id": "NP_001116293.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 290,
"cds_start": 817,
"cds_end": null,
"cds_length": 873,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.816dupA",
"hgvs_p": "p.Asp273fs",
"transcript": "NM_001374326.1",
"protein_id": "NP_001361255.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 290,
"cds_start": 817,
"cds_end": null,
"cds_length": 873,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.816dupA",
"hgvs_p": "p.Asp273fs",
"transcript": "ENST00000686840.1",
"protein_id": "ENSP00000509032.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 290,
"cds_start": 817,
"cds_end": null,
"cds_length": 873,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.750dupA",
"hgvs_p": "p.Asp251fs",
"transcript": "NM_001248000.2",
"protein_id": "NP_001234929.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 268,
"cds_start": 751,
"cds_end": null,
"cds_length": 807,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.750dupA",
"hgvs_p": "p.Asp251fs",
"transcript": "ENST00000409104.7",
"protein_id": "ENSP00000387321.3",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 268,
"cds_start": 751,
"cds_end": null,
"cds_length": 807,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.744dupA",
"hgvs_p": "p.Asp249fs",
"transcript": "NM_001248001.2",
"protein_id": "NP_001234930.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 266,
"cds_start": 745,
"cds_end": null,
"cds_length": 801,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.744dupA",
"hgvs_p": "p.Asp249fs",
"transcript": "ENST00000372686.6",
"protein_id": "ENSP00000361771.6",
"transcript_support_level": 2,
"aa_start": 249,
"aa_end": null,
"aa_length": 266,
"cds_start": 745,
"cds_end": null,
"cds_length": 801,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "c.645dupA",
"hgvs_p": "p.Asp216fs",
"transcript": "ENST00000686568.1",
"protein_id": "ENSP00000508597.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 233,
"cds_start": 646,
"cds_end": null,
"cds_length": 702,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1272,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "n.1520dupA",
"hgvs_p": null,
"transcript": "ENST00000480536.2",
"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": 3254,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "n.1263dupA",
"hgvs_p": null,
"transcript": "ENST00000685073.1",
"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": 2997,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "n.*679dupA",
"hgvs_p": null,
"transcript": "ENST00000691158.1",
"protein_id": "ENSP00000509950.1",
"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": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "n.*679dupA",
"hgvs_p": null,
"transcript": "ENST00000691158.1",
"protein_id": "ENSP00000509950.1",
"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": 2658,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305868",
"gene_hgnc_id": null,
"hgvs_c": "n.205-1035dupT",
"hgvs_p": null,
"transcript": "ENST00000813577.1",
"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": 889,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305868",
"gene_hgnc_id": null,
"hgvs_c": "n.190-1035dupT",
"hgvs_p": null,
"transcript": "ENST00000813578.1",
"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": 708,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305868",
"gene_hgnc_id": null,
"hgvs_c": "n.343-1035dupT",
"hgvs_p": null,
"transcript": "ENST00000813579.1",
"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": 482,
"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": "SET",
"gene_hgnc_id": 10760,
"hgvs_c": "n.*9_*10insA",
"hgvs_p": null,
"transcript": "ENST00000477806.5",
"protein_id": null,
"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": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SET",
"gene_hgnc_id": 10760,
"dbsnp": "rs1554777032",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.3700000047683716,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.377,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.37,
"spliceai_max_prediction": "Uncertain_significance",
"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": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000322030.13",
"gene_symbol": "SET",
"hgnc_id": 10760,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.777dupA",
"hgvs_p": "p.Asp260fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000813577.1",
"gene_symbol": "ENSG00000305868",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.205-1035dupT",
"hgvs_p": null
}
],
"clinvar_disease": "Dysgerminoma",
"clinvar_classification": "other",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Dysgerminoma",
"pathogenicity_classification_combined": "other",
"custom_annotations": null
}
],
"message": null
}