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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: 12-43376124-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=43376124&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ADAMTS20",
"hgnc_id": 17178,
"hgvs_c": "c.5245G>T",
"hgvs_p": "p.Glu1749*",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_025003.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000305349",
"hgnc_id": null,
"hgvs_c": "n.133-2878C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000810541.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1910,
"aa_ref": "E",
"aa_start": 1749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 5527,
"cds_end": null,
"cds_length": 5733,
"cds_start": 5245,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_025003.5",
"gene_hgnc_id": 17178,
"gene_symbol": "ADAMTS20",
"hgvs_c": "c.5245G>T",
"hgvs_p": "p.Glu1749*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389420.8",
"protein_coding": true,
"protein_id": "NP_079279.3",
"strand": false,
"transcript": "NM_025003.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1910,
"aa_ref": "E",
"aa_start": 1749,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 5527,
"cds_end": null,
"cds_length": 5733,
"cds_start": 5245,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000389420.8",
"gene_hgnc_id": 17178,
"gene_symbol": "ADAMTS20",
"hgvs_c": "c.5245G>T",
"hgvs_p": "p.Glu1749*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025003.5",
"protein_coding": true,
"protein_id": "ENSP00000374071.3",
"strand": false,
"transcript": "ENST00000389420.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1835,
"aa_ref": "E",
"aa_start": 1658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7227,
"cdna_start": 5253,
"cds_end": null,
"cds_length": 5508,
"cds_start": 4972,
"consequences": [
"stop_gained"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000935091.1",
"gene_hgnc_id": 17178,
"gene_symbol": "ADAMTS20",
"hgvs_c": "c.4972G>T",
"hgvs_p": "p.Glu1658*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605150.1",
"strand": false,
"transcript": "ENST00000935091.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1911,
"aa_ref": "E",
"aa_start": 1750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7464,
"cdna_start": 5530,
"cds_end": null,
"cds_length": 5736,
"cds_start": 5248,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_011538754.3",
"gene_hgnc_id": 17178,
"gene_symbol": "ADAMTS20",
"hgvs_c": "c.5248G>T",
"hgvs_p": "p.Glu1750*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537056.1",
"strand": false,
"transcript": "XM_011538754.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "E",
"aa_start": 1345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9126,
"cdna_start": 7192,
"cds_end": null,
"cds_length": 4521,
"cds_start": 4033,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017019979.2",
"gene_hgnc_id": 17178,
"gene_symbol": "ADAMTS20",
"hgvs_c": "c.4033G>T",
"hgvs_p": "p.Glu1345*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875468.1",
"strand": false,
"transcript": "XM_017019979.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000810541.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000305349",
"hgvs_c": "n.133-2878C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000810541.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs371611244",
"effect": "stop_gained",
"frequency_reference_population": 6.8632767e-7,
"gene_hgnc_id": 17178,
"gene_symbol": "ADAMTS20",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.86328e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.991,
"pos": 43376124,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.5299999713897705,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.53,
"transcript": "NM_025003.5"
}
]
}