← 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: 5-100856145-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=100856145&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 100856145,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005668.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA4",
"gene_hgnc_id": 10871,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"transcript": "NM_005668.6",
"protein_id": "NP_005659.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 359,
"cds_start": 755,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000231461.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005668.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA4",
"gene_hgnc_id": 10871,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"transcript": "ENST00000231461.10",
"protein_id": "ENSP00000231461.4",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 359,
"cds_start": 755,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005668.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231461.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA4",
"gene_hgnc_id": 10871,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000956904.1",
"protein_id": "ENSP00000626963.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 315,
"cds_start": 623,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956904.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA4",
"gene_hgnc_id": 10871,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166Gln",
"transcript": "ENST00000881366.1",
"protein_id": "ENSP00000551425.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 273,
"cds_start": 497,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881366.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA4",
"gene_hgnc_id": 10871,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"transcript": "XM_005272078.4",
"protein_id": "XP_005272135.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 282,
"cds_start": 755,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272078.4"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ST8SIA4",
"gene_hgnc_id": 10871,
"hgvs_c": "c.503+30198G>A",
"hgvs_p": null,
"transcript": "ENST00000881367.1",
"protein_id": "ENSP00000551426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881367.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ST8SIA4",
"gene_hgnc_id": 10871,
"hgvs_c": "c.503+30198G>A",
"hgvs_p": null,
"transcript": "XM_011543630.3",
"protein_id": "XP_011541932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543630.3"
}
],
"gene_symbol": "ST8SIA4",
"gene_hgnc_id": 10871,
"dbsnp": "rs781048508",
"frequency_reference_population": 0.0000223058,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000225753,
"gnomad_genomes_af": 0.0000197166,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13723817467689514,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.0753,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.935,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005668.6",
"gene_symbol": "ST8SIA4",
"hgnc_id": 10871,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln"
}
],
"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
}