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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: 19-2194524-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=2194524&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 2194524,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001411141.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys",
"transcript": "NM_032482.3",
"protein_id": "NP_115871.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1537,
"cds_start": 598,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398665.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032482.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys",
"transcript": "ENST00000398665.8",
"protein_id": "ENSP00000381657.3",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 1537,
"cds_start": 598,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032482.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398665.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys",
"transcript": "NM_001411141.1",
"protein_id": "NP_001398070.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1738,
"cds_start": 598,
"cds_end": null,
"cds_length": 5217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411141.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys",
"transcript": "ENST00000686010.1",
"protein_id": "ENSP00000510335.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1738,
"cds_start": 598,
"cds_end": null,
"cds_length": 5217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686010.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys",
"transcript": "ENST00000936177.1",
"protein_id": "ENSP00000606236.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1509,
"cds_start": 598,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936177.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"transcript": "ENST00000452696.5",
"protein_id": "ENSP00000404284.1",
"transcript_support_level": 3,
"aa_start": 176,
"aa_end": null,
"aa_length": 207,
"cds_start": 526,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452696.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys",
"transcript": "XM_011528359.3",
"protein_id": "XP_011526661.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1689,
"cds_start": 598,
"cds_end": null,
"cds_length": 5070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528359.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "XM_047439513.1",
"protein_id": "XP_047295469.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 1684,
"cds_start": 436,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439513.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Cys",
"transcript": "XM_047439514.1",
"protein_id": "XP_047295470.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1668,
"cds_start": 388,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439514.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys",
"transcript": "XM_047439515.1",
"protein_id": "XP_047295471.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1488,
"cds_start": 598,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439515.1"
}
],
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"dbsnp": "rs768832696",
"frequency_reference_population": 0.000024167013,
"hom_count_reference_population": 1,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.000020525,
"gnomad_genomes_af": 0.000059156,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25991958379745483,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.1947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.822,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001411141.1",
"gene_symbol": "DOT1L",
"hgnc_id": 24948,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}