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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: 8-43197696-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=43197696&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 43197696,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001363227.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1567A>T",
"hgvs_p": "p.Lys523*",
"transcript": "NM_152419.3",
"protein_id": "NP_689632.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 635,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379644.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152419.3"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1567A>T",
"hgvs_p": "p.Lys523*",
"transcript": "ENST00000379644.9",
"protein_id": "ENSP00000368965.4",
"transcript_support_level": 2,
"aa_start": 523,
"aa_end": null,
"aa_length": 635,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152419.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379644.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "n.883A>T",
"hgvs_p": null,
"transcript": "ENST00000519705.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000519705.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1768A>T",
"hgvs_p": "p.Lys590*",
"transcript": "ENST00000902460.1",
"protein_id": "ENSP00000572519.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 702,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902460.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Lys552*",
"transcript": "NM_001363227.2",
"protein_id": "NP_001350156.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 664,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363227.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Lys552*",
"transcript": "ENST00000902456.1",
"protein_id": "ENSP00000572515.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 664,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902456.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1618A>T",
"hgvs_p": "p.Lys540*",
"transcript": "ENST00000902461.1",
"protein_id": "ENSP00000572520.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 652,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902461.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1570A>T",
"hgvs_p": "p.Lys524*",
"transcript": "ENST00000902463.1",
"protein_id": "ENSP00000572522.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 636,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902463.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1564A>T",
"hgvs_p": "p.Lys522*",
"transcript": "ENST00000967241.1",
"protein_id": "ENSP00000637300.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 634,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967241.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1561A>T",
"hgvs_p": "p.Lys521*",
"transcript": "ENST00000902458.1",
"protein_id": "ENSP00000572517.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 633,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902458.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1486A>T",
"hgvs_p": "p.Lys496*",
"transcript": "ENST00000902459.1",
"protein_id": "ENSP00000572518.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 608,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902459.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1375A>T",
"hgvs_p": "p.Lys459*",
"transcript": "NM_001363228.2",
"protein_id": "NP_001350157.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 571,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363228.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1375A>T",
"hgvs_p": "p.Lys459*",
"transcript": "ENST00000902457.1",
"protein_id": "ENSP00000572516.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 571,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902457.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.718A>T",
"hgvs_p": "p.Lys240*",
"transcript": "ENST00000521576.1",
"protein_id": "ENSP00000429029.1",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 352,
"cds_start": 718,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521576.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.703A>T",
"hgvs_p": "p.Lys235*",
"transcript": "NM_001363229.2",
"protein_id": "NP_001350158.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 347,
"cds_start": 703,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363229.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.673A>T",
"hgvs_p": "p.Lys225*",
"transcript": "ENST00000902462.1",
"protein_id": "ENSP00000572521.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 337,
"cds_start": 673,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902462.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1678A>T",
"hgvs_p": "p.Lys560*",
"transcript": "XM_005273409.2",
"protein_id": "XP_005273466.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 672,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273409.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1486A>T",
"hgvs_p": "p.Lys496*",
"transcript": "XM_005273411.2",
"protein_id": "XP_005273468.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 608,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273411.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.814A>T",
"hgvs_p": "p.Lys272*",
"transcript": "XM_047421388.1",
"protein_id": "XP_047277344.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 384,
"cds_start": 814,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "n.1880A>T",
"hgvs_p": null,
"transcript": "ENST00000523989.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000523989.1"
}
],
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"dbsnp": "rs73569592",
"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": 0.5199999809265137,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.166,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.18,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001363227.2",
"gene_symbol": "HGSNAT",
"hgnc_id": 26527,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Lys552*"
}
],
"clinvar_disease": " MPS-III-C,Mucopolysaccharidosis",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Mucopolysaccharidosis, MPS-III-C",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}