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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: 19-15192182-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15192182&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15192182,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000435.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Cys",
"transcript": "NM_000435.3",
"protein_id": "NP_000426.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 2321,
"cds_start": 457,
"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": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Cys",
"transcript": "ENST00000263388.7",
"protein_id": "ENSP00000263388.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 2321,
"cds_start": 457,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Cys",
"transcript": "ENST00000931534.1",
"protein_id": "ENSP00000601593.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 2366,
"cds_start": 457,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000931532.1",
"protein_id": "ENSP00000601591.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 2262,
"cds_start": 436,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Cys",
"transcript": "ENST00000931535.1",
"protein_id": "ENSP00000601594.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 2253,
"cds_start": 457,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Cys",
"transcript": "ENST00000931533.1",
"protein_id": "ENSP00000601592.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1964,
"cds_start": 457,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000601011.1",
"protein_id": "ENSP00000473138.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 1285,
"cds_start": 454,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601011.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Cys",
"transcript": "XM_005259924.5",
"protein_id": "XP_005259981.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 2269,
"cds_start": 457,
"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"
}
],
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"dbsnp": "rs797045014",
"frequency_reference_population": 6.848293e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84829e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9800724983215332,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.782,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.847,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000435.3",
"gene_symbol": "NOTCH3",
"hgnc_id": 7883,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Cys"
}
],
"clinvar_disease": " 2, autosomal dominant, infantile, type 1, with subcortical infarcts and leukoencephalopathy,Cerebral arteriopathy,Ischemic stroke,Lateral meningocele syndrome,Myofibromatosis,Transient ischemic attack,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:11",
"phenotype_combined": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Transient ischemic attack;Ischemic stroke|not provided|Lateral meningocele syndrome;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;Myofibromatosis, infantile, 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}