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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: 19-2207673-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=2207673&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 2207673,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000398665.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "NM_032482.3",
"protein_id": "NP_115871.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1537,
"cds_start": 956,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 7652,
"mane_select": "ENST00000398665.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "ENST00000398665.8",
"protein_id": "ENSP00000381657.3",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 1537,
"cds_start": 956,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 7652,
"mane_select": "NM_032482.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "NM_001411141.1",
"protein_id": "NP_001398070.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1738,
"cds_start": 956,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 9700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "ENST00000686010.1",
"protein_id": "ENSP00000510335.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1738,
"cds_start": 956,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "XM_011528359.3",
"protein_id": "XP_011526661.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1689,
"cds_start": 956,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 9553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His",
"transcript": "XM_047439513.1",
"protein_id": "XP_047295469.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 1684,
"cds_start": 794,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 9558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249His",
"transcript": "XM_047439514.1",
"protein_id": "XP_047295470.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1668,
"cds_start": 746,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 9651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "XM_047439515.1",
"protein_id": "XP_047295471.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 1488,
"cds_start": 956,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 7505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "XM_011528361.3",
"protein_id": "XP_011526663.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1448,
"cds_start": 86,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 8894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOT1L",
"gene_hgnc_id": 24948,
"dbsnp": "rs2144815311",
"frequency_reference_population": 6.8554755e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85548e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8581804037094116,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.448,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9364,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.475,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000398665.8",
"gene_symbol": "DOT1L",
"hgnc_id": 24948,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His"
}
],
"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
}