← 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: 9-136506764-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136506764&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PP3",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NOTCH1",
"hgnc_id": 7881,
"hgvs_c": "c.3853G>A",
"hgvs_p": "p.Val1285Met",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -8,
"transcript": "NM_017617.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6,BS1,BS2",
"acmg_score": -8,
"allele_count_reference_population": 134,
"alphamissense_prediction": null,
"alphamissense_score": 0.2279,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "9",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Adams-Oliver syndrome 5,Aortic valve disease 1,Familial thoracic aortic aneurysm and aortic dissection,Hypoplastic left heart syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:1 B:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7476246953010559,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2555,
"aa_ref": "V",
"aa_start": 1285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9568,
"cdna_start": 4115,
"cds_end": null,
"cds_length": 7668,
"cds_start": 3853,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_017617.5",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "c.3853G>A",
"hgvs_p": "p.Val1285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651671.1",
"protein_coding": true,
"protein_id": "NP_060087.3",
"strand": false,
"transcript": "NM_017617.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2555,
"aa_ref": "V",
"aa_start": 1285,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9568,
"cdna_start": 4115,
"cds_end": null,
"cds_length": 7668,
"cds_start": 3853,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000651671.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "c.3853G>A",
"hgvs_p": "p.Val1285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017617.5",
"protein_coding": true,
"protein_id": "ENSP00000498587.1",
"strand": false,
"transcript": "ENST00000651671.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2518,
"aa_ref": "V",
"aa_start": 1248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9249,
"cdna_start": 3807,
"cds_end": null,
"cds_length": 7557,
"cds_start": 3742,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000927794.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Val1248Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597853.1",
"strand": false,
"transcript": "ENST00000927794.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2517,
"aa_ref": "V",
"aa_start": 1247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9379,
"cdna_start": 3950,
"cds_end": null,
"cds_length": 7554,
"cds_start": 3739,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000680133.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505319.1",
"strand": false,
"transcript": "ENST00000680133.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2517,
"aa_ref": "V",
"aa_start": 1247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9454,
"cdna_start": 4001,
"cds_end": null,
"cds_length": 7554,
"cds_start": 3739,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000680668.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506336.1",
"strand": false,
"transcript": "ENST00000680668.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "V",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6995,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 5265,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000680778.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506033.1",
"strand": false,
"transcript": "ENST00000680778.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2314,
"aa_ref": "V",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 3145,
"cds_end": null,
"cds_length": 6945,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011518717.3",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "c.3130G>A",
"hgvs_p": "p.Val1044Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517019.2",
"strand": false,
"transcript": "XM_011518717.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2515,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9448,
"cdna_start": null,
"cds_end": null,
"cds_length": 7548,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680218.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "c.3781+72G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505339.1",
"strand": false,
"transcript": "ENST00000680218.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3719,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000645828.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.1660G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000645828.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9855,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000679595.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.3853G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506241.1",
"strand": false,
"transcript": "ENST00000679595.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000680924.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.*1253G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506031.1",
"strand": false,
"transcript": "ENST00000680924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9649,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000681135.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.*1462G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506636.1",
"strand": false,
"transcript": "ENST00000681135.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000681298.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.666G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000681298.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000681454.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.*3089G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505763.1",
"strand": false,
"transcript": "ENST00000681454.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000680924.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.*1253G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506031.1",
"strand": false,
"transcript": "ENST00000680924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9649,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000681135.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.*1462G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506636.1",
"strand": false,
"transcript": "ENST00000681135.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000681454.1",
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"hgvs_c": "n.*3089G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505763.1",
"strand": false,
"transcript": "ENST00000681454.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs756972680",
"effect": "missense_variant",
"frequency_reference_population": 0.00008335231,
"gene_hgnc_id": 7881,
"gene_symbol": "NOTCH1",
"gnomad_exomes_ac": 120,
"gnomad_exomes_af": 0.0000824518,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 14,
"gnomad_genomes_af": 0.0000919613,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Adams-Oliver syndrome 5|Hypoplastic left heart syndrome|Familial thoracic aortic aneurysm and aortic dissection|Aortic valve disease 1|Aortic valve disease 1;Adams-Oliver syndrome 5|not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.814,
"pos": 136506764,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.63,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017617.5"
}
]
}