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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: 8-43191495-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=43191495&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 43191495,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000379644.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Arg384Gly",
"transcript": "NM_152419.3",
"protein_id": "NP_689632.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 635,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 5227,
"mane_select": "ENST00000379644.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Arg384Gly",
"transcript": "ENST00000379644.9",
"protein_id": "ENSP00000368965.4",
"transcript_support_level": 2,
"aa_start": 384,
"aa_end": null,
"aa_length": 635,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 5227,
"mane_select": "NM_152419.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Arg384Gly",
"transcript": "NM_001363227.2",
"protein_id": "NP_001350156.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 664,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Arg320Gly",
"transcript": "NM_001363228.2",
"protein_id": "NP_001350157.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 571,
"cds_start": 958,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Arg101Gly",
"transcript": "ENST00000521576.1",
"protein_id": "ENSP00000429029.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 352,
"cds_start": 301,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Arg96Gly",
"transcript": "NM_001363229.2",
"protein_id": "NP_001350158.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 347,
"cds_start": 286,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "ENST00000524016.5",
"protein_id": "ENSP00000428322.1",
"transcript_support_level": 4,
"aa_start": 85,
"aa_end": null,
"aa_length": 251,
"cds_start": 253,
"cds_end": null,
"cds_length": 756,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.458C>G",
"hgvs_p": "p.Ser153Trp",
"transcript": "ENST00000522082.5",
"protein_id": "ENSP00000430151.1",
"transcript_support_level": 4,
"aa_start": 153,
"aa_end": null,
"aa_length": 183,
"cds_start": 458,
"cds_end": null,
"cds_length": 552,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Arg384Gly",
"transcript": "XM_005273409.2",
"protein_id": "XP_005273466.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 672,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Arg320Gly",
"transcript": "XM_005273411.2",
"protein_id": "XP_005273468.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 608,
"cds_start": 958,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 5146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Arg384Gly",
"transcript": "XM_005273412.5",
"protein_id": "XP_005273469.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 502,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Arg96Gly",
"transcript": "XM_047421388.1",
"protein_id": "XP_047277344.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 384,
"cds_start": 286,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 370,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"hgvs_c": "n.636C>G",
"hgvs_p": null,
"transcript": "ENST00000519000.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.83C>G",
"hgvs_p": null,
"transcript": "ENST00000520678.1",
"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": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HGSNAT",
"gene_hgnc_id": 26527,
"dbsnp": "rs775078211",
"frequency_reference_population": 0.0000037179927,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342097,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2706696391105652,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.959,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"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": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000379644.9",
"gene_symbol": "HGSNAT",
"hgnc_id": 26527,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Arg384Gly"
}
],
"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
}