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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: 11-118503036-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118503036&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118503036,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000534358.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7144C>G",
"hgvs_p": "p.Arg2382Gly",
"transcript": "NM_001197104.2",
"protein_id": "NP_001184033.1",
"transcript_support_level": null,
"aa_start": 2382,
"aa_end": null,
"aa_length": 3972,
"cds_start": 7144,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 7165,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "ENST00000534358.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7144C>G",
"hgvs_p": "p.Arg2382Gly",
"transcript": "ENST00000534358.8",
"protein_id": "ENSP00000436786.2",
"transcript_support_level": 1,
"aa_start": 2382,
"aa_end": null,
"aa_length": 3972,
"cds_start": 7144,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 7165,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "NM_001197104.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7135C>G",
"hgvs_p": "p.Arg2379Gly",
"transcript": "ENST00000389506.10",
"protein_id": "ENSP00000374157.5",
"transcript_support_level": 1,
"aa_start": 2379,
"aa_end": null,
"aa_length": 3969,
"cds_start": 7135,
"cds_end": null,
"cds_length": 11910,
"cdna_start": 7158,
"cdna_end": null,
"cdna_length": 13678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7243C>G",
"hgvs_p": "p.Arg2415Gly",
"transcript": "ENST00000531904.7",
"protein_id": "ENSP00000432391.3",
"transcript_support_level": 2,
"aa_start": 2415,
"aa_end": null,
"aa_length": 4005,
"cds_start": 7243,
"cds_end": null,
"cds_length": 12018,
"cdna_start": 7264,
"cdna_end": null,
"cdna_length": 16699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7234C>G",
"hgvs_p": "p.Arg2412Gly",
"transcript": "NM_001412597.1",
"protein_id": "NP_001399526.1",
"transcript_support_level": null,
"aa_start": 2412,
"aa_end": null,
"aa_length": 4002,
"cds_start": 7234,
"cds_end": null,
"cds_length": 12009,
"cdna_start": 7255,
"cdna_end": null,
"cdna_length": 16690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7234C>G",
"hgvs_p": "p.Arg2412Gly",
"transcript": "ENST00000710560.1",
"protein_id": "ENSP00000518343.1",
"transcript_support_level": null,
"aa_start": 2412,
"aa_end": null,
"aa_length": 4002,
"cds_start": 7234,
"cds_end": null,
"cds_length": 12009,
"cdna_start": 7290,
"cdna_end": null,
"cdna_length": 16725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7216C>G",
"hgvs_p": "p.Arg2406Gly",
"transcript": "ENST00000691053.1",
"protein_id": "ENSP00000509168.1",
"transcript_support_level": null,
"aa_start": 2406,
"aa_end": null,
"aa_length": 3996,
"cds_start": 7216,
"cds_end": null,
"cds_length": 11991,
"cdna_start": 7224,
"cdna_end": null,
"cdna_length": 13708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7135C>G",
"hgvs_p": "p.Arg2379Gly",
"transcript": "NM_005933.4",
"protein_id": "NP_005924.2",
"transcript_support_level": null,
"aa_start": 2379,
"aa_end": null,
"aa_length": 3969,
"cds_start": 7135,
"cds_end": null,
"cds_length": 11910,
"cdna_start": 7156,
"cdna_end": null,
"cdna_length": 16591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7021C>G",
"hgvs_p": "p.Arg2341Gly",
"transcript": "ENST00000649699.1",
"protein_id": "ENSP00000496927.1",
"transcript_support_level": null,
"aa_start": 2341,
"aa_end": null,
"aa_length": 3931,
"cds_start": 7021,
"cds_end": null,
"cds_length": 11796,
"cdna_start": 7021,
"cdna_end": null,
"cdna_length": 11796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.1183C>G",
"hgvs_p": "p.Arg395Gly",
"transcript": "ENST00000686370.1",
"protein_id": "ENSP00000509179.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1792,
"cds_start": 1183,
"cds_end": null,
"cds_length": 5381,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 5381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.1183C>G",
"hgvs_p": "p.Arg395Gly",
"transcript": "ENST00000685397.1",
"protein_id": "ENSP00000509586.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1758,
"cds_start": 1183,
"cds_end": null,
"cds_length": 5279,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.1441C>G",
"hgvs_p": "p.Arg481Gly",
"transcript": "ENST00000689424.1",
"protein_id": "ENSP00000509852.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 1682,
"cds_start": 1441,
"cds_end": null,
"cds_length": 5051,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 5051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7243C>G",
"hgvs_p": "p.Arg2415Gly",
"transcript": "XM_011542829.3",
"protein_id": "XP_011541131.1",
"transcript_support_level": null,
"aa_start": 2415,
"aa_end": null,
"aa_length": 4005,
"cds_start": 7243,
"cds_end": null,
"cds_length": 12018,
"cdna_start": 7264,
"cdna_end": null,
"cdna_length": 16699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7240C>G",
"hgvs_p": "p.Arg2414Gly",
"transcript": "XM_011542830.3",
"protein_id": "XP_011541132.1",
"transcript_support_level": null,
"aa_start": 2414,
"aa_end": null,
"aa_length": 4004,
"cds_start": 7240,
"cds_end": null,
"cds_length": 12015,
"cdna_start": 7261,
"cdna_end": null,
"cdna_length": 16696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.7231C>G",
"hgvs_p": "p.Arg2411Gly",
"transcript": "XM_047426963.1",
"protein_id": "XP_047282919.1",
"transcript_support_level": null,
"aa_start": 2411,
"aa_end": null,
"aa_length": 4001,
"cds_start": 7231,
"cds_end": null,
"cds_length": 12006,
"cdna_start": 7252,
"cdna_end": null,
"cdna_length": 16687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.4726C>G",
"hgvs_p": "p.Arg1576Gly",
"transcript": "XM_011542833.3",
"protein_id": "XP_011541135.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 3166,
"cds_start": 4726,
"cds_end": null,
"cds_length": 9501,
"cdna_start": 4747,
"cdna_end": null,
"cdna_length": 14182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.4627C>G",
"hgvs_p": "p.Arg1543Gly",
"transcript": "XM_006718839.4",
"protein_id": "XP_006718902.2",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 3133,
"cds_start": 4627,
"cds_end": null,
"cds_length": 9402,
"cdna_start": 4648,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.4618C>G",
"hgvs_p": "p.Arg1540Gly",
"transcript": "XM_047426964.1",
"protein_id": "XP_047282920.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 3130,
"cds_start": 4618,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 14074,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.6486C>G",
"hgvs_p": null,
"transcript": "ENST00000528278.2",
"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": 8635,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.1183C>G",
"hgvs_p": null,
"transcript": "ENST00000649878.2",
"protein_id": "ENSP00000497891.2",
"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": 7013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"dbsnp": "rs387907275",
"frequency_reference_population": 0.0000013687699,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136877,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07254022359848022,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.463,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.113,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.427,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534358.8",
"gene_symbol": "KMT2A",
"hgnc_id": 7132,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7144C>G",
"hgvs_p": "p.Arg2382Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}