← Back to variant description
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: 9-20354845-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=20354845&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 20354845,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004529.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.1466A>C",
"hgvs_p": "p.Lys489Thr",
"transcript": "NM_004529.4",
"protein_id": "NP_004520.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 568,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": "ENST00000380338.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004529.4"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.1466A>C",
"hgvs_p": "p.Lys489Thr",
"transcript": "ENST00000380338.9",
"protein_id": "ENSP00000369695.4",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 568,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": "NM_004529.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380338.9"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.1457A>C",
"hgvs_p": "p.Lys486Thr",
"transcript": "NM_001286691.2",
"protein_id": "NP_001273620.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 565,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286691.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.1457A>C",
"hgvs_p": "p.Lys486Thr",
"transcript": "ENST00000630269.2",
"protein_id": "ENSP00000485996.1",
"transcript_support_level": 2,
"aa_start": 486,
"aa_end": null,
"aa_length": 565,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630269.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Lys83Thr",
"transcript": "ENST00000380321.5",
"protein_id": "ENSP00000369678.1",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 162,
"cds_start": 248,
"cds_end": null,
"cds_length": 489,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380321.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Lys83Thr",
"transcript": "ENST00000629733.3",
"protein_id": "ENSP00000486193.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 138,
"cds_start": 248,
"cds_end": null,
"cds_length": 417,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629733.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.192+5897A>C",
"hgvs_p": null,
"transcript": "ENST00000469261.5",
"protein_id": "ENSP00000502424.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469261.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "n.126A>C",
"hgvs_p": null,
"transcript": "ENST00000488705.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 457,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC124902129",
"gene_hgnc_id": null,
"hgvs_c": "n.3784+2700T>G",
"hgvs_p": null,
"transcript": "XR_007061433.1",
"protein_id": null,
"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": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061433.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC124902129",
"gene_hgnc_id": null,
"hgvs_c": "n.3879+2445T>G",
"hgvs_p": null,
"transcript": "XR_007061434.1",
"protein_id": null,
"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": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061434.1"
}
],
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"dbsnp": "rs765186482",
"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": 0.29651814699172974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.329,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4188,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.85,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004529.4",
"gene_symbol": "MLLT3",
"hgnc_id": 7136,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1466A>C",
"hgvs_p": "p.Lys489Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007061433.1",
"gene_symbol": "LOC124902129",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3784+2700T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}