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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: 9-136508064-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136508064&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136508064,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000651671.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.3401A>C",
"hgvs_p": "p.Gln1134Pro",
"transcript": "NM_017617.5",
"protein_id": "NP_060087.3",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2555,
"cds_start": 3401,
"cds_end": null,
"cds_length": 7668,
"cdna_start": 3663,
"cdna_end": null,
"cdna_length": 9568,
"mane_select": "ENST00000651671.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.3401A>C",
"hgvs_p": "p.Gln1134Pro",
"transcript": "ENST00000651671.1",
"protein_id": "ENSP00000498587.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2555,
"cds_start": 3401,
"cds_end": null,
"cds_length": 7668,
"cdna_start": 3663,
"cdna_end": null,
"cdna_length": 9568,
"mane_select": "NM_017617.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.3287A>C",
"hgvs_p": "p.Gln1096Pro",
"transcript": "ENST00000680133.1",
"protein_id": "ENSP00000505319.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 2517,
"cds_start": 3287,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 3498,
"cdna_end": null,
"cdna_length": 9379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.3287A>C",
"hgvs_p": "p.Gln1096Pro",
"transcript": "ENST00000680668.1",
"protein_id": "ENSP00000506336.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 2517,
"cds_start": 3287,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 3549,
"cdna_end": null,
"cdna_length": 9454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.3401A>C",
"hgvs_p": "p.Gln1134Pro",
"transcript": "ENST00000680218.1",
"protein_id": "ENSP00000505339.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2515,
"cds_start": 3401,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 3663,
"cdna_end": null,
"cdna_length": 9448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.998A>C",
"hgvs_p": "p.Gln333Pro",
"transcript": "ENST00000680778.1",
"protein_id": "ENSP00000506033.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1754,
"cds_start": 998,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 6995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.2678A>C",
"hgvs_p": "p.Gln893Pro",
"transcript": "XM_011518717.3",
"protein_id": "XP_011517019.2",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 2314,
"cds_start": 2678,
"cds_end": null,
"cds_length": 6945,
"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.1208A>C",
"hgvs_p": null,
"transcript": "ENST00000645828.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.3401A>C",
"hgvs_p": null,
"transcript": "ENST00000679595.1",
"protein_id": "ENSP00000506241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*801A>C",
"hgvs_p": null,
"transcript": "ENST00000680924.1",
"protein_id": "ENSP00000506031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*1010A>C",
"hgvs_p": null,
"transcript": "ENST00000681135.1",
"protein_id": "ENSP00000506636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.214A>C",
"hgvs_p": null,
"transcript": "ENST00000681298.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*2637A>C",
"hgvs_p": null,
"transcript": "ENST00000681454.1",
"protein_id": "ENSP00000505763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*801A>C",
"hgvs_p": null,
"transcript": "ENST00000680924.1",
"protein_id": "ENSP00000506031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*1010A>C",
"hgvs_p": null,
"transcript": "ENST00000681135.1",
"protein_id": "ENSP00000506636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*2637A>C",
"hgvs_p": null,
"transcript": "ENST00000681454.1",
"protein_id": "ENSP00000505763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*229A>C",
"hgvs_p": null,
"transcript": "ENST00000680882.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"dbsnp": "rs374230681",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7906644344329834,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.636,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0642,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.73,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651671.1",
"gene_symbol": "NOTCH1",
"hgnc_id": 7881,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3401A>C",
"hgvs_p": "p.Gln1134Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}