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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: 19-15181686-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15181686&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15181686,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000435.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.2682C>T",
"hgvs_p": "p.Asn894Asn",
"transcript": "NM_000435.3",
"protein_id": "NP_000426.2",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 2321,
"cds_start": 2682,
"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": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.2682C>T",
"hgvs_p": "p.Asn894Asn",
"transcript": "ENST00000263388.7",
"protein_id": "ENSP00000263388.1",
"transcript_support_level": 1,
"aa_start": 894,
"aa_end": null,
"aa_length": 2321,
"cds_start": 2682,
"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": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.2817C>T",
"hgvs_p": "p.Asn939Asn",
"transcript": "ENST00000931534.1",
"protein_id": "ENSP00000601593.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 2366,
"cds_start": 2817,
"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": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.2505C>T",
"hgvs_p": "p.Asn835Asn",
"transcript": "ENST00000931532.1",
"protein_id": "ENSP00000601591.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 2262,
"cds_start": 2505,
"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": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asn842Asn",
"transcript": "ENST00000931535.1",
"protein_id": "ENSP00000601594.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 2253,
"cds_start": 2526,
"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": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.1611C>T",
"hgvs_p": "p.Asn537Asn",
"transcript": "ENST00000931533.1",
"protein_id": "ENSP00000601592.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 1964,
"cds_start": 1611,
"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": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.2523C>T",
"hgvs_p": "p.Asn841Asn",
"transcript": "ENST00000601011.1",
"protein_id": "ENSP00000473138.1",
"transcript_support_level": 5,
"aa_start": 841,
"aa_end": null,
"aa_length": 1285,
"cds_start": 2523,
"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": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH3",
"gene_hgnc_id": 7883,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asn842Asn",
"transcript": "XM_005259924.5",
"protein_id": "XP_005259981.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 2269,
"cds_start": 2526,
"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": "rs138245070",
"frequency_reference_population": 0.00017695234,
"hom_count_reference_population": 1,
"allele_count_reference_population": 276,
"gnomad_exomes_af": 0.0000937908,
"gnomad_genomes_af": 0.000945167,
"gnomad_exomes_ac": 132,
"gnomad_genomes_ac": 144,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.715,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_000435.3",
"gene_symbol": "NOTCH3",
"hgnc_id": 7883,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2682C>T",
"hgvs_p": "p.Asn894Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}