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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: 11-118496333-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118496333&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118496333,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000534358.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5630C>T",
"hgvs_p": "p.Ala1877Val",
"transcript": "NM_001197104.2",
"protein_id": "NP_001184033.1",
"transcript_support_level": null,
"aa_start": 1877,
"aa_end": null,
"aa_length": 3972,
"cds_start": 5630,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 5651,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "ENST00000534358.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5630C>T",
"hgvs_p": "p.Ala1877Val",
"transcript": "ENST00000534358.8",
"protein_id": "ENSP00000436786.2",
"transcript_support_level": 1,
"aa_start": 1877,
"aa_end": null,
"aa_length": 3972,
"cds_start": 5630,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 5651,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "NM_001197104.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5621C>T",
"hgvs_p": "p.Ala1874Val",
"transcript": "ENST00000389506.10",
"protein_id": "ENSP00000374157.5",
"transcript_support_level": 1,
"aa_start": 1874,
"aa_end": null,
"aa_length": 3969,
"cds_start": 5621,
"cds_end": null,
"cds_length": 11910,
"cdna_start": 5644,
"cdna_end": null,
"cdna_length": 13678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5729C>T",
"hgvs_p": "p.Ala1910Val",
"transcript": "ENST00000531904.7",
"protein_id": "ENSP00000432391.3",
"transcript_support_level": 2,
"aa_start": 1910,
"aa_end": null,
"aa_length": 4005,
"cds_start": 5729,
"cds_end": null,
"cds_length": 12018,
"cdna_start": 5750,
"cdna_end": null,
"cdna_length": 16699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5720C>T",
"hgvs_p": "p.Ala1907Val",
"transcript": "NM_001412597.1",
"protein_id": "NP_001399526.1",
"transcript_support_level": null,
"aa_start": 1907,
"aa_end": null,
"aa_length": 4002,
"cds_start": 5720,
"cds_end": null,
"cds_length": 12009,
"cdna_start": 5741,
"cdna_end": null,
"cdna_length": 16690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5720C>T",
"hgvs_p": "p.Ala1907Val",
"transcript": "ENST00000710560.1",
"protein_id": "ENSP00000518343.1",
"transcript_support_level": null,
"aa_start": 1907,
"aa_end": null,
"aa_length": 4002,
"cds_start": 5720,
"cds_end": null,
"cds_length": 12009,
"cdna_start": 5776,
"cdna_end": null,
"cdna_length": 16725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5621C>T",
"hgvs_p": "p.Ala1874Val",
"transcript": "ENST00000691053.1",
"protein_id": "ENSP00000509168.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 3996,
"cds_start": 5621,
"cds_end": null,
"cds_length": 11991,
"cdna_start": 5629,
"cdna_end": null,
"cdna_length": 13708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5621C>T",
"hgvs_p": "p.Ala1874Val",
"transcript": "NM_005933.4",
"protein_id": "NP_005924.2",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 3969,
"cds_start": 5621,
"cds_end": null,
"cds_length": 11910,
"cdna_start": 5642,
"cdna_end": null,
"cdna_length": 16591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5507C>T",
"hgvs_p": "p.Ala1836Val",
"transcript": "ENST00000649699.1",
"protein_id": "ENSP00000496927.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 3931,
"cds_start": 5507,
"cds_end": null,
"cds_length": 11796,
"cdna_start": 5507,
"cdna_end": null,
"cdna_length": 11796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Ala189Val",
"transcript": "ENST00000691002.1",
"protein_id": "ENSP00000510212.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 199,
"cds_start": 566,
"cds_end": null,
"cds_length": 600,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5729C>T",
"hgvs_p": "p.Ala1910Val",
"transcript": "XM_011542829.3",
"protein_id": "XP_011541131.1",
"transcript_support_level": null,
"aa_start": 1910,
"aa_end": null,
"aa_length": 4005,
"cds_start": 5729,
"cds_end": null,
"cds_length": 12018,
"cdna_start": 5750,
"cdna_end": null,
"cdna_length": 16699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5726C>T",
"hgvs_p": "p.Ala1909Val",
"transcript": "XM_011542830.3",
"protein_id": "XP_011541132.1",
"transcript_support_level": null,
"aa_start": 1909,
"aa_end": null,
"aa_length": 4004,
"cds_start": 5726,
"cds_end": null,
"cds_length": 12015,
"cdna_start": 5747,
"cdna_end": null,
"cdna_length": 16696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5717C>T",
"hgvs_p": "p.Ala1906Val",
"transcript": "XM_047426963.1",
"protein_id": "XP_047282919.1",
"transcript_support_level": null,
"aa_start": 1906,
"aa_end": null,
"aa_length": 4001,
"cds_start": 5717,
"cds_end": null,
"cds_length": 12006,
"cdna_start": 5738,
"cdna_end": null,
"cdna_length": 16687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.3212C>T",
"hgvs_p": "p.Ala1071Val",
"transcript": "XM_011542833.3",
"protein_id": "XP_011541135.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 3166,
"cds_start": 3212,
"cds_end": null,
"cds_length": 9501,
"cdna_start": 3233,
"cdna_end": null,
"cdna_length": 14182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.3113C>T",
"hgvs_p": "p.Ala1038Val",
"transcript": "XM_006718839.4",
"protein_id": "XP_006718902.2",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 3133,
"cds_start": 3113,
"cds_end": null,
"cds_length": 9402,
"cdna_start": 3134,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.3104C>T",
"hgvs_p": "p.Ala1035Val",
"transcript": "XM_047426964.1",
"protein_id": "XP_047282920.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 3130,
"cds_start": 3104,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 3125,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.1143C>T",
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.*163C>T",
"hgvs_p": null,
"transcript": "ENST00000693536.1",
"protein_id": "ENSP00000509415.1",
"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": 546,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.*163C>T",
"hgvs_p": null,
"transcript": "ENST00000693536.1",
"protein_id": "ENSP00000509415.1",
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"dbsnp": "rs782094920",
"frequency_reference_population": 0.0000111572135,
"hom_count_reference_population": 1,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109489,
"gnomad_genomes_af": 0.0000131598,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3174998462200165,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.458,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1608,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.449,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000534358.8",
"gene_symbol": "KMT2A",
"hgnc_id": 7132,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5630C>T",
"hgvs_p": "p.Ala1877Val"
}
],
"clinvar_disease": "Intellectual disability,KMT2A-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Intellectual disability|KMT2A-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}