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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: 11-118509150-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118509150&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KMT2A",
"hgnc_id": 7132,
"hgvs_c": "c.10940T>A",
"hgvs_p": "p.Leu3647His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001412597.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1092,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21778810024261475,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3972,
"aa_ref": "L",
"aa_start": 3617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16600,
"cdna_start": 10871,
"cds_end": null,
"cds_length": 11919,
"cds_start": 10850,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001197104.2",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10850T>A",
"hgvs_p": "p.Leu3617His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000534358.8",
"protein_coding": true,
"protein_id": "NP_001184033.1",
"strand": true,
"transcript": "NM_001197104.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3972,
"aa_ref": "L",
"aa_start": 3617,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16600,
"cdna_start": 10871,
"cds_end": null,
"cds_length": 11919,
"cds_start": 10850,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000534358.8",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10850T>A",
"hgvs_p": "p.Leu3617His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001197104.2",
"protein_coding": true,
"protein_id": "ENSP00000436786.2",
"strand": true,
"transcript": "ENST00000534358.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3969,
"aa_ref": "L",
"aa_start": 3614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13678,
"cdna_start": 10864,
"cds_end": null,
"cds_length": 11910,
"cds_start": 10841,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000389506.10",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10841T>A",
"hgvs_p": "p.Leu3614His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374157.5",
"strand": true,
"transcript": "ENST00000389506.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4005,
"aa_ref": "L",
"aa_start": 3650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16699,
"cdna_start": 10970,
"cds_end": null,
"cds_length": 12018,
"cds_start": 10949,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000531904.7",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10949T>A",
"hgvs_p": "p.Leu3650His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432391.3",
"strand": true,
"transcript": "ENST00000531904.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4002,
"aa_ref": "L",
"aa_start": 3647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16690,
"cdna_start": 10961,
"cds_end": null,
"cds_length": 12009,
"cds_start": 10940,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001412597.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10940T>A",
"hgvs_p": "p.Leu3647His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399526.1",
"strand": true,
"transcript": "NM_001412597.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4002,
"aa_ref": "L",
"aa_start": 3647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16725,
"cdna_start": 10996,
"cds_end": null,
"cds_length": 12009,
"cds_start": 10940,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000710560.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10940T>A",
"hgvs_p": "p.Leu3647His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518343.1",
"strand": true,
"transcript": "ENST00000710560.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4001,
"aa_ref": "L",
"aa_start": 3646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16674,
"cdna_start": 10953,
"cds_end": null,
"cds_length": 12006,
"cds_start": 10937,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000926390.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10937T>A",
"hgvs_p": "p.Leu3646His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596449.1",
"strand": true,
"transcript": "ENST00000926390.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3996,
"aa_ref": "L",
"aa_start": 3641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13708,
"cdna_start": 10930,
"cds_end": null,
"cds_length": 11991,
"cds_start": 10922,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000691053.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10922T>A",
"hgvs_p": "p.Leu3641His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509168.1",
"strand": true,
"transcript": "ENST00000691053.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3969,
"aa_ref": "L",
"aa_start": 3614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16591,
"cdna_start": 10862,
"cds_end": null,
"cds_length": 11910,
"cds_start": 10841,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_005933.4",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10841T>A",
"hgvs_p": "p.Leu3614His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005924.2",
"strand": true,
"transcript": "NM_005933.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3931,
"aa_ref": "L",
"aa_start": 3576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11796,
"cdna_start": 10727,
"cds_end": null,
"cds_length": 11796,
"cds_start": 10727,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000649699.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10727T>A",
"hgvs_p": "p.Leu3576His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496927.1",
"strand": true,
"transcript": "ENST00000649699.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1792,
"aa_ref": "L",
"aa_start": 1637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5381,
"cdna_start": 4910,
"cds_end": null,
"cds_length": 5381,
"cds_start": 4910,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000686370.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4910T>A",
"hgvs_p": "p.Leu1637His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509179.1",
"strand": true,
"transcript": "ENST00000686370.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1758,
"aa_ref": "L",
"aa_start": 1603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 4808,
"cds_end": null,
"cds_length": 5279,
"cds_start": 4808,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000685397.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4808T>A",
"hgvs_p": "p.Leu1603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509586.1",
"strand": true,
"transcript": "ENST00000685397.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4005,
"aa_ref": "L",
"aa_start": 3650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16699,
"cdna_start": 10970,
"cds_end": null,
"cds_length": 12018,
"cds_start": 10949,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011542829.3",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10949T>A",
"hgvs_p": "p.Leu3650His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541131.1",
"strand": true,
"transcript": "XM_011542829.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4004,
"aa_ref": "L",
"aa_start": 3649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16696,
"cdna_start": 10967,
"cds_end": null,
"cds_length": 12015,
"cds_start": 10946,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011542830.3",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10946T>A",
"hgvs_p": "p.Leu3649His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541132.1",
"strand": true,
"transcript": "XM_011542830.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4001,
"aa_ref": "L",
"aa_start": 3646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16687,
"cdna_start": 10958,
"cds_end": null,
"cds_length": 12006,
"cds_start": 10937,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047426963.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.10937T>A",
"hgvs_p": "p.Leu3646His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282919.1",
"strand": true,
"transcript": "XM_047426963.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3166,
"aa_ref": "L",
"aa_start": 2811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14182,
"cdna_start": 8453,
"cds_end": null,
"cds_length": 9501,
"cds_start": 8432,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011542833.3",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.8432T>A",
"hgvs_p": "p.Leu2811His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541135.1",
"strand": true,
"transcript": "XM_011542833.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3133,
"aa_ref": "L",
"aa_start": 2778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14083,
"cdna_start": 8354,
"cds_end": null,
"cds_length": 9402,
"cds_start": 8333,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_006718839.4",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.8333T>A",
"hgvs_p": "p.Leu2778His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718902.2",
"strand": true,
"transcript": "XM_006718839.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 3130,
"aa_ref": "L",
"aa_start": 2775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14074,
"cdna_start": 8345,
"cds_end": null,
"cds_length": 9393,
"cds_start": 8324,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047426964.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.8324T>A",
"hgvs_p": "p.Leu2775His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282920.1",
"strand": true,
"transcript": "XM_047426964.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000534678.3",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "n.308T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000534678.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000648565.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "n.86T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000648565.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7013,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649878.2",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
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]
}