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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: 11-134383778-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=134383778&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 134383778,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_054025.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.523C>A",
"hgvs_p": "p.Arg175Ser",
"transcript": "NM_054025.3",
"protein_id": "NP_473366.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 334,
"cds_start": 523,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": "ENST00000312527.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.523C>A",
"hgvs_p": "p.Arg175Ser",
"transcript": "ENST00000312527.9",
"protein_id": "ENSP00000307875.4",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 334,
"cds_start": 523,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": "NM_054025.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.523C>A",
"hgvs_p": "p.Arg175Ser",
"transcript": "ENST00000392580.5",
"protein_id": "ENSP00000376359.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 334,
"cds_start": 523,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "n.3420C>A",
"hgvs_p": null,
"transcript": "ENST00000531778.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 6160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.562C>A",
"hgvs_p": "p.Arg188Ser",
"transcript": "NM_001367973.1",
"protein_id": "NP_001354902.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 562,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.523C>A",
"hgvs_p": "p.Arg175Ser",
"transcript": "NM_018644.3",
"protein_id": "NP_061114.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 334,
"cds_start": 523,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.523C>A",
"hgvs_p": "p.Arg175Ser",
"transcript": "ENST00000524765.1",
"protein_id": "ENSP00000433847.1",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 334,
"cds_start": 523,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 5068,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.562C>A",
"hgvs_p": "p.Arg188Ser",
"transcript": "XM_011542753.3",
"protein_id": "XP_011541055.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 562,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.562C>A",
"hgvs_p": "p.Arg188Ser",
"transcript": "XM_017017551.3",
"protein_id": "XP_016873040.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 562,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.562C>A",
"hgvs_p": "p.Arg188Ser",
"transcript": "XM_024448439.1",
"protein_id": "XP_024304207.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 562,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.562C>A",
"hgvs_p": "p.Arg188Ser",
"transcript": "XM_047426771.1",
"protein_id": "XP_047282727.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 562,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.562C>A",
"hgvs_p": "p.Arg188Ser",
"transcript": "XM_047426772.1",
"protein_id": "XP_047282728.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 347,
"cds_start": 562,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "c.523C>A",
"hgvs_p": "p.Arg175Ser",
"transcript": "XM_047426773.1",
"protein_id": "XP_047282729.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 334,
"cds_start": 523,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"hgvs_c": "n.*221C>A",
"hgvs_p": null,
"transcript": "ENST00000531510.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "B3GAT1",
"gene_hgnc_id": 921,
"dbsnp": "rs1167877969",
"frequency_reference_population": 0.000018789551,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000186932,
"gnomad_genomes_af": 0.0000197034,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6096389889717102,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.404,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6981,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.169,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_054025.3",
"gene_symbol": "B3GAT1",
"hgnc_id": 921,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.523C>A",
"hgvs_p": "p.Arg175Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}