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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: 4-99342808-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99342808&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99342808,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000669.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "NM_000669.5",
"protein_id": "NP_000660.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 375,
"cds_start": 815,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000515683.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000669.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000515683.6",
"protein_id": "ENSP00000426083.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 375,
"cds_start": 815,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000669.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515683.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000865215.1",
"protein_id": "ENSP00000535274.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 375,
"cds_start": 815,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865215.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000865216.1",
"protein_id": "ENSP00000535275.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 375,
"cds_start": 815,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865216.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000865217.1",
"protein_id": "ENSP00000535276.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 375,
"cds_start": 815,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865217.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000865222.1",
"protein_id": "ENSP00000535281.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 366,
"cds_start": 815,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865222.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Arg258Gln",
"transcript": "ENST00000865221.1",
"protein_id": "ENSP00000535280.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 361,
"cds_start": 773,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865221.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238Gln",
"transcript": "ENST00000865218.1",
"protein_id": "ENSP00000535277.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 341,
"cds_start": 713,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.786+29G>A",
"hgvs_p": null,
"transcript": "ENST00000865220.1",
"protein_id": "ENSP00000535279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.567+2054G>A",
"hgvs_p": null,
"transcript": "ENST00000865219.1",
"protein_id": "ENSP00000535278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.465+2054G>A",
"hgvs_p": null,
"transcript": "ENST00000865223.1",
"protein_id": "ENSP00000535282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.19-2098G>A",
"hgvs_p": null,
"transcript": "ENST00000865224.1",
"protein_id": "ENSP00000535283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865224.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "n.855+31G>A",
"hgvs_p": null,
"transcript": "NR_133005.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_133005.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.*118G>A",
"hgvs_p": null,
"transcript": "ENST00000510055.5",
"protein_id": "ENSP00000478439.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510055.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"hgvs_c": "c.*203G>A",
"hgvs_p": null,
"transcript": "ENST00000511397.3",
"protein_id": "ENSP00000478545.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511397.3"
}
],
"gene_symbol": "ADH1C",
"gene_hgnc_id": 251,
"dbsnp": "rs1693482",
"frequency_reference_population": 0.38040504,
"hom_count_reference_population": 124558,
"allele_count_reference_population": 613340,
"gnomad_exomes_af": 0.387507,
"gnomad_genomes_af": 0.312263,
"gnomad_exomes_ac": 565821,
"gnomad_genomes_ac": 47519,
"gnomad_exomes_homalt": 115688,
"gnomad_genomes_homalt": 8870,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00006473056419054046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1257,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.447,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000669.5",
"gene_symbol": "ADH1C",
"hgnc_id": 251,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln"
}
],
"clinvar_disease": "Alcohol dependence",
"clinvar_classification": "protective",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Alcohol dependence",
"pathogenicity_classification_combined": "protective",
"custom_annotations": null
}
],
"message": null
}