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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: 8-43178184-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=43178184&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 43178184,
"ref": "T",
"alt": "G",
"effect": "stop_gained",
"transcript": "ENST00000379644.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.962T>G",
"hgvs_p": "p.Leu321*",
"transcript": "NM_152419.3",
"protein_id": "NP_689632.2",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 635,
"cds_start": 962,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5227,
"mane_select": "ENST00000379644.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.962T>G",
"hgvs_p": "p.Leu321*",
"transcript": "ENST00000379644.9",
"protein_id": "ENSP00000368965.4",
"transcript_support_level": 2,
"aa_start": 321,
"aa_end": null,
"aa_length": 635,
"cds_start": 962,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5227,
"mane_select": "NM_152419.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.962T>G",
"hgvs_p": "p.Leu321*",
"transcript": "NM_001363227.2",
"protein_id": "NP_001350156.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 664,
"cds_start": 962,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.98T>G",
"hgvs_p": "p.Leu33*",
"transcript": "NM_001363229.2",
"protein_id": "NP_001350158.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 347,
"cds_start": 98,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.65T>G",
"hgvs_p": "p.Leu22*",
"transcript": "ENST00000524016.5",
"protein_id": "ENSP00000428322.1",
"transcript_support_level": 4,
"aa_start": 22,
"aa_end": null,
"aa_length": 251,
"cds_start": 65,
"cds_end": null,
"cds_length": 756,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.203T>G",
"hgvs_p": "p.Leu68*",
"transcript": "ENST00000522082.5",
"protein_id": "ENSP00000430151.1",
"transcript_support_level": 4,
"aa_start": 68,
"aa_end": null,
"aa_length": 183,
"cds_start": 203,
"cds_end": null,
"cds_length": 552,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.962T>G",
"hgvs_p": "p.Leu321*",
"transcript": "XM_005273409.2",
"protein_id": "XP_005273466.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 672,
"cds_start": 962,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.962T>G",
"hgvs_p": "p.Leu321*",
"transcript": "XM_005273412.5",
"protein_id": "XP_005273469.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 502,
"cds_start": 962,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.98T>G",
"hgvs_p": "p.Leu33*",
"transcript": "XM_047421388.1",
"protein_id": "XP_047277344.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 384,
"cds_start": 98,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.821-3961T>G",
"hgvs_p": null,
"transcript": "NM_001363228.2",
"protein_id": "NP_001350157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.821-3961T>G",
"hgvs_p": null,
"transcript": "XM_005273411.2",
"protein_id": "XP_005273468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"dbsnp": "rs121908283",
"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": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.33,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000379644.9",
"gene_symbol": "HGSNAT",
"hgnc_id": 26527,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.962T>G",
"hgvs_p": "p.Leu321*"
}
],
"clinvar_disease": " MPS-III-C,Mucopolysaccharidosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Mucopolysaccharidosis, MPS-III-C",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}