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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: 19-15170321-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15170321&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15170321,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_000435.3",
"consequences": [
{
"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": 33,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.5114+10C>G",
"hgvs_p": null,
"transcript": "NM_000435.3",
"protein_id": "NP_000426.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2321,
"cds_start": null,
"cds_end": null,
"cds_length": 6966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263388.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000435.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.5114+10C>G",
"hgvs_p": null,
"transcript": "ENST00000263388.7",
"protein_id": "ENSP00000263388.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2321,
"cds_start": null,
"cds_end": null,
"cds_length": 6966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000435.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263388.7"
},
{
"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": 34,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.5249+10C>G",
"hgvs_p": null,
"transcript": "ENST00000931534.1",
"protein_id": "ENSP00000601593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2366,
"cds_start": null,
"cds_end": null,
"cds_length": 7101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931534.1"
},
{
"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": 32,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.4937+10C>G",
"hgvs_p": null,
"transcript": "ENST00000931532.1",
"protein_id": "ENSP00000601591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2262,
"cds_start": null,
"cds_end": null,
"cds_length": 6789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931532.1"
},
{
"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": 32,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.4910+10C>G",
"hgvs_p": null,
"transcript": "ENST00000931535.1",
"protein_id": "ENSP00000601594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2253,
"cds_start": null,
"cds_end": null,
"cds_length": 6762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931535.1"
},
{
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.4043+10C>G",
"hgvs_p": null,
"transcript": "ENST00000931533.1",
"protein_id": "ENSP00000601592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1964,
"cds_start": null,
"cds_end": null,
"cds_length": 5895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931533.1"
},
{
"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": 32,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.4958+10C>G",
"hgvs_p": null,
"transcript": "XM_005259924.5",
"protein_id": "XP_005259981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2269,
"cds_start": null,
"cds_end": null,
"cds_length": 6810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259924.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "n.-173C>G",
"hgvs_p": null,
"transcript": "ENST00000595514.1",
"protein_id": "ENSP00000470661.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000595514.1"
}
],
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"dbsnp": "rs369547319",
"frequency_reference_population": 0.000047187794,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.0000315443,
"gnomad_genomes_af": 0.000196954,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.152,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_000435.3",
"gene_symbol": "NOTCH3",
"hgnc_id": 7883,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5114+10C>G",
"hgvs_p": null
}
],
"clinvar_disease": "NOTCH3-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not specified|not provided|NOTCH3-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}