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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: 11-118484971-T-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118484971&ref=T&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"effects": [
"splice_donor_variant",
"intron_variant"
],
"gene_symbol": "KMT2A",
"hgnc_id": 7132,
"hgvs_c": "c.4430_4431dupAG",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001412597.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 3972,
"aa_ref": "G",
"aa_start": 1441,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16600,
"cdna_start": 4343,
"cds_end": null,
"cds_length": 11919,
"cds_start": 4322,
"consequences": [
"frameshift_variant"
],
"exon_count": 36,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000534358.8",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4321_4322insAG",
"hgvs_p": "p.Gly1441fs",
"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": "E?",
"aa_end": null,
"aa_length": 3969,
"aa_ref": "G",
"aa_start": 1441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13678,
"cdna_start": 4345,
"cds_end": null,
"cds_length": 11910,
"cds_start": 4322,
"consequences": [
"frameshift_variant"
],
"exon_count": 36,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000389506.10",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4321_4322insAG",
"hgvs_p": "p.Gly1441fs",
"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": null,
"aa_end": null,
"aa_length": 3972,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16600,
"cdna_start": null,
"cds_end": null,
"cds_length": 11919,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001197104.2",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4331_4332dupAG",
"hgvs_p": null,
"intron_rank": 10,
"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": "E?",
"aa_end": null,
"aa_length": 4005,
"aa_ref": "G",
"aa_start": 1474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16699,
"cdna_start": 4442,
"cds_end": null,
"cds_length": 12018,
"cds_start": 4421,
"consequences": [
"frameshift_variant"
],
"exon_count": 37,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000531904.7",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4420_4421insAG",
"hgvs_p": "p.Gly1474fs",
"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": "E?",
"aa_end": null,
"aa_length": 4002,
"aa_ref": "G",
"aa_start": 1474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16725,
"cdna_start": 4477,
"cds_end": null,
"cds_length": 12009,
"cds_start": 4421,
"consequences": [
"frameshift_variant"
],
"exon_count": 37,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000710560.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4420_4421insAG",
"hgvs_p": "p.Gly1474fs",
"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": "E?",
"aa_end": null,
"aa_length": 4001,
"aa_ref": "G",
"aa_start": 1474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16674,
"cdna_start": 4437,
"cds_end": null,
"cds_length": 12006,
"cds_start": 4421,
"consequences": [
"frameshift_variant"
],
"exon_count": 37,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926390.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4420_4421insAG",
"hgvs_p": "p.Gly1474fs",
"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": "E?",
"aa_end": null,
"aa_length": 3996,
"aa_ref": "G",
"aa_start": 1441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13708,
"cdna_start": 4330,
"cds_end": null,
"cds_length": 11991,
"cds_start": 4322,
"consequences": [
"frameshift_variant"
],
"exon_count": 37,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000691053.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4321_4322insAG",
"hgvs_p": "p.Gly1441fs",
"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": "E?",
"aa_end": null,
"aa_length": 259,
"aa_ref": "G",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": 101,
"cds_end": null,
"cds_length": 780,
"cds_start": 101,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000685498.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.100_101insAG",
"hgvs_p": "p.Gly34fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509293.1",
"strand": true,
"transcript": "ENST00000685498.1",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 129,
"aa_ref": "G",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 390,
"cdna_start": 233,
"cds_end": null,
"cds_length": 390,
"cds_start": 233,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000420751.4",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.232_233insAG",
"hgvs_p": "p.Gly78fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510776.1",
"strand": true,
"transcript": "ENST00000420751.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 4002,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16690,
"cdna_start": null,
"cds_end": null,
"cds_length": 12009,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412597.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4430_4431dupAG",
"hgvs_p": null,
"intron_rank": 11,
"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": null,
"aa_end": null,
"aa_length": 3969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16591,
"cdna_start": null,
"cds_end": null,
"cds_length": 11910,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005933.4",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4331_4332dupAG",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 3931,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11796,
"cdna_start": null,
"cds_end": null,
"cds_length": 11796,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649699.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4218+650_4218+651insAG",
"hgvs_p": null,
"intron_rank": 9,
"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": null,
"aa_end": null,
"aa_length": 4005,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16699,
"cdna_start": null,
"cds_end": null,
"cds_length": 12018,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542829.3",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4430_4431dupAG",
"hgvs_p": null,
"intron_rank": 11,
"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": null,
"aa_end": null,
"aa_length": 4004,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16696,
"cdna_start": null,
"cds_end": null,
"cds_length": 12015,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542830.3",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4430_4431dupAG",
"hgvs_p": null,
"intron_rank": 11,
"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": null,
"aa_end": null,
"aa_length": 4001,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16687,
"cdna_start": null,
"cds_end": null,
"cds_length": 12006,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426963.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.4430_4431dupAG",
"hgvs_p": null,
"intron_rank": 11,
"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": null,
"aa_end": null,
"aa_length": 3166,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14182,
"cdna_start": null,
"cds_end": null,
"cds_length": 9501,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542833.3",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.1913_1914dupAG",
"hgvs_p": null,
"intron_rank": 11,
"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": null,
"aa_end": null,
"aa_length": 3133,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14083,
"cdna_start": null,
"cds_end": null,
"cds_length": 9402,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006718839.4",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.1814_1815dupAG",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 3130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14074,
"cdna_start": null,
"cds_end": null,
"cds_length": 9393,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426964.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "c.1814_1815dupAG",
"hgvs_p": null,
"intron_rank": 10,
"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": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000685719.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "n.*212_*213insAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509757.1",
"strand": true,
"transcript": "ENST00000685719.1",
"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": 1239,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000685719.1",
"gene_hgnc_id": 7132,
"gene_symbol": "KMT2A",
"hgvs_c": "n.*212_*213insAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509757.1",
"strand": true,
"transcript": "ENST00000685719.1",
"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": 866,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
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