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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: 11-118503550-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118503550&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118503550,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "NM_001412597.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7659dupA",
"hgvs_p": "p.Glu2554fs",
"transcript": "NM_001197104.2",
"protein_id": "NP_001184033.1",
"transcript_support_level": null,
"aa_start": 2554,
"aa_end": null,
"aa_length": 3972,
"cds_start": 7660,
"cds_end": null,
"cds_length": 11919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000534358.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197104.2"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7659dupA",
"hgvs_p": "p.Glu2554fs",
"transcript": "ENST00000534358.8",
"protein_id": "ENSP00000436786.2",
"transcript_support_level": 1,
"aa_start": 2554,
"aa_end": null,
"aa_length": 3972,
"cds_start": 7660,
"cds_end": null,
"cds_length": 11919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001197104.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534358.8"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7650dupA",
"hgvs_p": "p.Glu2551fs",
"transcript": "ENST00000389506.10",
"protein_id": "ENSP00000374157.5",
"transcript_support_level": 1,
"aa_start": 2551,
"aa_end": null,
"aa_length": 3969,
"cds_start": 7651,
"cds_end": null,
"cds_length": 11910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389506.10"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7758dupA",
"hgvs_p": "p.Glu2587fs",
"transcript": "ENST00000531904.7",
"protein_id": "ENSP00000432391.3",
"transcript_support_level": 2,
"aa_start": 2587,
"aa_end": null,
"aa_length": 4005,
"cds_start": 7759,
"cds_end": null,
"cds_length": 12018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531904.7"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7749dupA",
"hgvs_p": "p.Glu2584fs",
"transcript": "NM_001412597.1",
"protein_id": "NP_001399526.1",
"transcript_support_level": null,
"aa_start": 2584,
"aa_end": null,
"aa_length": 4002,
"cds_start": 7750,
"cds_end": null,
"cds_length": 12009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412597.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7749dupA",
"hgvs_p": "p.Glu2584fs",
"transcript": "ENST00000710560.1",
"protein_id": "ENSP00000518343.1",
"transcript_support_level": null,
"aa_start": 2584,
"aa_end": null,
"aa_length": 4002,
"cds_start": 7750,
"cds_end": null,
"cds_length": 12009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710560.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7746dupA",
"hgvs_p": "p.Glu2583fs",
"transcript": "ENST00000926390.1",
"protein_id": "ENSP00000596449.1",
"transcript_support_level": null,
"aa_start": 2583,
"aa_end": null,
"aa_length": 4001,
"cds_start": 7747,
"cds_end": null,
"cds_length": 12006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926390.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7731dupA",
"hgvs_p": "p.Glu2578fs",
"transcript": "ENST00000691053.1",
"protein_id": "ENSP00000509168.1",
"transcript_support_level": null,
"aa_start": 2578,
"aa_end": null,
"aa_length": 3996,
"cds_start": 7732,
"cds_end": null,
"cds_length": 11991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691053.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7650dupA",
"hgvs_p": "p.Glu2551fs",
"transcript": "NM_005933.4",
"protein_id": "NP_005924.2",
"transcript_support_level": null,
"aa_start": 2551,
"aa_end": null,
"aa_length": 3969,
"cds_start": 7651,
"cds_end": null,
"cds_length": 11910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005933.4"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7536dupA",
"hgvs_p": "p.Glu2513fs",
"transcript": "ENST00000649699.1",
"protein_id": "ENSP00000496927.1",
"transcript_support_level": null,
"aa_start": 2513,
"aa_end": null,
"aa_length": 3931,
"cds_start": 7537,
"cds_end": null,
"cds_length": 11796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649699.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1698dupA",
"hgvs_p": "p.Glu567fs",
"transcript": "ENST00000686370.1",
"protein_id": "ENSP00000509179.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1792,
"cds_start": 1699,
"cds_end": null,
"cds_length": 5381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686370.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1698dupA",
"hgvs_p": "p.Glu567fs",
"transcript": "ENST00000685397.1",
"protein_id": "ENSP00000509586.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1758,
"cds_start": 1699,
"cds_end": null,
"cds_length": 5279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685397.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1956dupA",
"hgvs_p": "p.Glu653fs",
"transcript": "ENST00000689424.1",
"protein_id": "ENSP00000509852.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 1682,
"cds_start": 1957,
"cds_end": null,
"cds_length": 5051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689424.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7758dupA",
"hgvs_p": "p.Glu2587fs",
"transcript": "XM_011542829.3",
"protein_id": "XP_011541131.1",
"transcript_support_level": null,
"aa_start": 2587,
"aa_end": null,
"aa_length": 4005,
"cds_start": 7759,
"cds_end": null,
"cds_length": 12018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542829.3"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7755dupA",
"hgvs_p": "p.Glu2586fs",
"transcript": "XM_011542830.3",
"protein_id": "XP_011541132.1",
"transcript_support_level": null,
"aa_start": 2586,
"aa_end": null,
"aa_length": 4004,
"cds_start": 7756,
"cds_end": null,
"cds_length": 12015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542830.3"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.7746dupA",
"hgvs_p": "p.Glu2583fs",
"transcript": "XM_047426963.1",
"protein_id": "XP_047282919.1",
"transcript_support_level": null,
"aa_start": 2583,
"aa_end": null,
"aa_length": 4001,
"cds_start": 7747,
"cds_end": null,
"cds_length": 12006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426963.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.5241dupA",
"hgvs_p": "p.Glu1748fs",
"transcript": "XM_011542833.3",
"protein_id": "XP_011541135.1",
"transcript_support_level": null,
"aa_start": 1748,
"aa_end": null,
"aa_length": 3166,
"cds_start": 5242,
"cds_end": null,
"cds_length": 9501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542833.3"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.5142dupA",
"hgvs_p": "p.Glu1715fs",
"transcript": "XM_006718839.4",
"protein_id": "XP_006718902.2",
"transcript_support_level": null,
"aa_start": 1715,
"aa_end": null,
"aa_length": 3133,
"cds_start": 5143,
"cds_end": null,
"cds_length": 9402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718839.4"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.5133dupA",
"hgvs_p": "p.Glu1712fs",
"transcript": "XM_047426964.1",
"protein_id": "XP_047282920.1",
"transcript_support_level": null,
"aa_start": 1712,
"aa_end": null,
"aa_length": 3130,
"cds_start": 5134,
"cds_end": null,
"cds_length": 9393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426964.1"
},
{
"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.7001dupA",
"hgvs_p": null,
"transcript": "ENST00000528278.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528278.2"
},
{
"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.1698dupA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649878.2"
}
],
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"dbsnp": "rs1057520177",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.335,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001412597.1",
"gene_symbol": "KMT2A",
"hgnc_id": 7132,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7749dupA",
"hgvs_p": "p.Glu2584fs"
}
],
"clinvar_disease": "Wiedemann-Steiner syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided|Wiedemann-Steiner syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}