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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: 11-118497950-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118497950&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118497950,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000534358.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5679A>G",
"hgvs_p": "p.Leu1893Leu",
"transcript": "NM_001197104.2",
"protein_id": "NP_001184033.1",
"transcript_support_level": null,
"aa_start": 1893,
"aa_end": null,
"aa_length": 3972,
"cds_start": 5679,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 5700,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "ENST00000534358.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5679A>G",
"hgvs_p": "p.Leu1893Leu",
"transcript": "ENST00000534358.8",
"protein_id": "ENSP00000436786.2",
"transcript_support_level": 1,
"aa_start": 1893,
"aa_end": null,
"aa_length": 3972,
"cds_start": 5679,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 5700,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "NM_001197104.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5670A>G",
"hgvs_p": "p.Leu1890Leu",
"transcript": "ENST00000389506.10",
"protein_id": "ENSP00000374157.5",
"transcript_support_level": 1,
"aa_start": 1890,
"aa_end": null,
"aa_length": 3969,
"cds_start": 5670,
"cds_end": null,
"cds_length": 11910,
"cdna_start": 5693,
"cdna_end": null,
"cdna_length": 13678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5778A>G",
"hgvs_p": "p.Leu1926Leu",
"transcript": "ENST00000531904.7",
"protein_id": "ENSP00000432391.3",
"transcript_support_level": 2,
"aa_start": 1926,
"aa_end": null,
"aa_length": 4005,
"cds_start": 5778,
"cds_end": null,
"cds_length": 12018,
"cdna_start": 5799,
"cdna_end": null,
"cdna_length": 16699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5769A>G",
"hgvs_p": "p.Leu1923Leu",
"transcript": "NM_001412597.1",
"protein_id": "NP_001399526.1",
"transcript_support_level": null,
"aa_start": 1923,
"aa_end": null,
"aa_length": 4002,
"cds_start": 5769,
"cds_end": null,
"cds_length": 12009,
"cdna_start": 5790,
"cdna_end": null,
"cdna_length": 16690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5769A>G",
"hgvs_p": "p.Leu1923Leu",
"transcript": "ENST00000710560.1",
"protein_id": "ENSP00000518343.1",
"transcript_support_level": null,
"aa_start": 1923,
"aa_end": null,
"aa_length": 4002,
"cds_start": 5769,
"cds_end": null,
"cds_length": 12009,
"cdna_start": 5825,
"cdna_end": null,
"cdna_length": 16725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5751A>G",
"hgvs_p": "p.Leu1917Leu",
"transcript": "ENST00000691053.1",
"protein_id": "ENSP00000509168.1",
"transcript_support_level": null,
"aa_start": 1917,
"aa_end": null,
"aa_length": 3996,
"cds_start": 5751,
"cds_end": null,
"cds_length": 11991,
"cdna_start": 5759,
"cdna_end": null,
"cdna_length": 13708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5670A>G",
"hgvs_p": "p.Leu1890Leu",
"transcript": "NM_005933.4",
"protein_id": "NP_005924.2",
"transcript_support_level": null,
"aa_start": 1890,
"aa_end": null,
"aa_length": 3969,
"cds_start": 5670,
"cds_end": null,
"cds_length": 11910,
"cdna_start": 5691,
"cdna_end": null,
"cdna_length": 16591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5556A>G",
"hgvs_p": "p.Leu1852Leu",
"transcript": "ENST00000649699.1",
"protein_id": "ENSP00000496927.1",
"transcript_support_level": null,
"aa_start": 1852,
"aa_end": null,
"aa_length": 3931,
"cds_start": 5556,
"cds_end": null,
"cds_length": 11796,
"cdna_start": 5556,
"cdna_end": null,
"cdna_length": 11796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Leu5Leu",
"transcript": "ENST00000689424.1",
"protein_id": "ENSP00000509852.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1682,
"cds_start": 15,
"cds_end": null,
"cds_length": 5051,
"cdna_start": 15,
"cdna_end": null,
"cdna_length": 5051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5778A>G",
"hgvs_p": "p.Leu1926Leu",
"transcript": "XM_011542829.3",
"protein_id": "XP_011541131.1",
"transcript_support_level": null,
"aa_start": 1926,
"aa_end": null,
"aa_length": 4005,
"cds_start": 5778,
"cds_end": null,
"cds_length": 12018,
"cdna_start": 5799,
"cdna_end": null,
"cdna_length": 16699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5775A>G",
"hgvs_p": "p.Leu1925Leu",
"transcript": "XM_011542830.3",
"protein_id": "XP_011541132.1",
"transcript_support_level": null,
"aa_start": 1925,
"aa_end": null,
"aa_length": 4004,
"cds_start": 5775,
"cds_end": null,
"cds_length": 12015,
"cdna_start": 5796,
"cdna_end": null,
"cdna_length": 16696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5766A>G",
"hgvs_p": "p.Leu1922Leu",
"transcript": "XM_047426963.1",
"protein_id": "XP_047282919.1",
"transcript_support_level": null,
"aa_start": 1922,
"aa_end": null,
"aa_length": 4001,
"cds_start": 5766,
"cds_end": null,
"cds_length": 12006,
"cdna_start": 5787,
"cdna_end": null,
"cdna_length": 16687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.3261A>G",
"hgvs_p": "p.Leu1087Leu",
"transcript": "XM_011542833.3",
"protein_id": "XP_011541135.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 3166,
"cds_start": 3261,
"cds_end": null,
"cds_length": 9501,
"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 14182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.3162A>G",
"hgvs_p": "p.Leu1054Leu",
"transcript": "XM_006718839.4",
"protein_id": "XP_006718902.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 3133,
"cds_start": 3162,
"cds_end": null,
"cds_length": 9402,
"cdna_start": 3183,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.3153A>G",
"hgvs_p": "p.Leu1051Leu",
"transcript": "XM_047426964.1",
"protein_id": "XP_047282920.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 3130,
"cds_start": 3153,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 3174,
"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.2760A>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
}
],
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"dbsnp": "rs7107305",
"frequency_reference_population": 0.05686824,
"hom_count_reference_population": 2965,
"allele_count_reference_population": 91583,
"gnomad_exomes_af": 0.0584656,
"gnomad_genomes_af": 0.0415731,
"gnomad_exomes_ac": 85252,
"gnomad_genomes_ac": 6331,
"gnomad_exomes_homalt": 2780,
"gnomad_genomes_homalt": 185,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.98,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000534358.8",
"gene_symbol": "KMT2A",
"hgnc_id": 7132,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5679A>G",
"hgvs_p": "p.Leu1893Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}