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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: 9-136496339-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136496339&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136496339,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651671.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.7400C>T",
"hgvs_p": "p.Ser2467Leu",
"transcript": "NM_017617.5",
"protein_id": "NP_060087.3",
"transcript_support_level": null,
"aa_start": 2467,
"aa_end": null,
"aa_length": 2555,
"cds_start": 7400,
"cds_end": null,
"cds_length": 7668,
"cdna_start": 7662,
"cdna_end": null,
"cdna_length": 9568,
"mane_select": "ENST00000651671.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.7400C>T",
"hgvs_p": "p.Ser2467Leu",
"transcript": "ENST00000651671.1",
"protein_id": "ENSP00000498587.1",
"transcript_support_level": null,
"aa_start": 2467,
"aa_end": null,
"aa_length": 2555,
"cds_start": 7400,
"cds_end": null,
"cds_length": 7668,
"cdna_start": 7662,
"cdna_end": null,
"cdna_length": 9568,
"mane_select": "NM_017617.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.7286C>T",
"hgvs_p": "p.Ser2429Leu",
"transcript": "ENST00000680133.1",
"protein_id": "ENSP00000505319.1",
"transcript_support_level": null,
"aa_start": 2429,
"aa_end": null,
"aa_length": 2517,
"cds_start": 7286,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 7497,
"cdna_end": null,
"cdna_length": 9379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.7286C>T",
"hgvs_p": "p.Ser2429Leu",
"transcript": "ENST00000680668.1",
"protein_id": "ENSP00000506336.1",
"transcript_support_level": null,
"aa_start": 2429,
"aa_end": null,
"aa_length": 2517,
"cds_start": 7286,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 7548,
"cdna_end": null,
"cdna_length": 9454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.7280C>T",
"hgvs_p": "p.Ser2427Leu",
"transcript": "ENST00000680218.1",
"protein_id": "ENSP00000505339.1",
"transcript_support_level": null,
"aa_start": 2427,
"aa_end": null,
"aa_length": 2515,
"cds_start": 7280,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 7542,
"cdna_end": null,
"cdna_length": 9448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.4997C>T",
"hgvs_p": "p.Ser1666Leu",
"transcript": "ENST00000680778.1",
"protein_id": "ENSP00000506033.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5265,
"cdna_start": 5089,
"cdna_end": null,
"cdna_length": 6995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "c.6677C>T",
"hgvs_p": "p.Ser2226Leu",
"transcript": "XM_011518717.3",
"protein_id": "XP_011517019.2",
"transcript_support_level": null,
"aa_start": 2226,
"aa_end": null,
"aa_length": 2314,
"cds_start": 6677,
"cds_end": null,
"cds_length": 6945,
"cdna_start": 6692,
"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": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*2440C>T",
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.3996C>T",
"hgvs_p": null,
"transcript": "ENST00000679969.1",
"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": 5891,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.3732C>T",
"hgvs_p": null,
"transcript": "ENST00000680003.1",
"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": 5627,
"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": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*4800C>T",
"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": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*5009C>T",
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.5505C>T",
"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": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*6636C>T",
"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": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*2440C>T",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*4800C>T",
"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": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*5009C>T",
"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": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"hgvs_c": "n.*6636C>T",
"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
}
],
"gene_symbol": "NOTCH1",
"gene_hgnc_id": 7881,
"dbsnp": "rs375025242",
"frequency_reference_population": 0.00014751707,
"hom_count_reference_population": 0,
"allele_count_reference_population": 235,
"gnomad_exomes_af": 0.000151995,
"gnomad_genomes_af": 0.000105126,
"gnomad_exomes_ac": 219,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03067547082901001,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.0827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.025,
"phylop100way_prediction": "Uncertain_significance",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000651671.1",
"gene_symbol": "NOTCH1",
"hgnc_id": 7881,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7400C>T",
"hgvs_p": "p.Ser2467Leu"
}
],
"clinvar_disease": "Adams-Oliver syndrome 5,Familial thoracic aortic aneurysm and aortic dissection,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 O:1",
"phenotype_combined": "not specified|Familial thoracic aortic aneurysm and aortic dissection|Adams-Oliver syndrome 5|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}