← Back to variant description
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: 12-120999307-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120999307&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120999307,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000257555.11",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.His514Arg",
"transcript": "NM_000545.8",
"protein_id": "NP_000536.6",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 631,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": "ENST00000257555.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.His514Arg",
"transcript": "ENST00000257555.11",
"protein_id": "ENSP00000257555.5",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 631,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": "NM_000545.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.His514Arg",
"transcript": "ENST00000544413.2",
"protein_id": "ENSP00000438804.1",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 638,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 2014,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.*981A>G",
"hgvs_p": null,
"transcript": "ENST00000540108.1",
"protein_id": "ENSP00000445445.1",
"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": 3039,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.*288A>G",
"hgvs_p": null,
"transcript": "ENST00000560968.6",
"protein_id": "ENSP00000453965.2",
"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": 3030,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.*981A>G",
"hgvs_p": null,
"transcript": "ENST00000540108.1",
"protein_id": "ENSP00000445445.1",
"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": 3039,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.*288A>G",
"hgvs_p": null,
"transcript": "ENST00000560968.6",
"protein_id": "ENSP00000453965.2",
"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": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.His514Arg",
"transcript": "ENST00000541395.5",
"protein_id": "ENSP00000443112.1",
"transcript_support_level": 2,
"aa_start": 514,
"aa_end": null,
"aa_length": 662,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.His514Arg",
"transcript": "NM_001306179.2",
"protein_id": "NP_001293108.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 638,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.His450Arg",
"transcript": "NM_001406915.1",
"protein_id": "NP_001393844.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 567,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.His514Arg",
"transcript": "XM_024449168.2",
"protein_id": "XP_024304936.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 662,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"dbsnp": "rs202039659",
"frequency_reference_population": 0.00023608464,
"hom_count_reference_population": 1,
"allele_count_reference_population": 381,
"gnomad_exomes_af": 0.000232603,
"gnomad_genomes_af": 0.000269542,
"gnomad_exomes_ac": 340,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0394761860370636,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.85,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.149,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.439,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1,BP5,PP3",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 9,
"pathogenic_score": 1,
"criteria": [
"BA1",
"BP5",
"PP3"
],
"verdict": "Benign",
"transcript": "ENST00000257555.11",
"gene_symbol": "HNF1A",
"hgnc_id": 11621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.His514Arg"
}
],
"clinvar_disease": "Diabetes mellitus type 1,Maturity onset diabetes mellitus in young,Maturity-onset diabetes of the young type 3,Monogenic diabetes,Type 1 diabetes mellitus 20,Type 2 diabetes mellitus,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:8 LB:1 B:3",
"phenotype_combined": "not specified|not provided|Monogenic diabetes|Maturity-onset diabetes of the young type 3|Maturity onset diabetes mellitus in young|Diabetes mellitus type 1;Maturity-onset diabetes of the young type 3;Type 1 diabetes mellitus 20;Type 2 diabetes mellitus",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}