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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: 11-121590137-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=121590137&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 121590137,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000260197.12",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORL1",
"gene_hgnc_id": 11185,
"hgvs_c": "c.4176C>G",
"hgvs_p": "p.Asn1392Lys",
"transcript": "NM_003105.6",
"protein_id": "NP_003096.2",
"transcript_support_level": null,
"aa_start": 1392,
"aa_end": null,
"aa_length": 2214,
"cds_start": 4176,
"cds_end": null,
"cds_length": 6645,
"cdna_start": 4194,
"cdna_end": null,
"cdna_length": 10863,
"mane_select": "ENST00000260197.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORL1",
"gene_hgnc_id": 11185,
"hgvs_c": "c.4176C>G",
"hgvs_p": "p.Asn1392Lys",
"transcript": "ENST00000260197.12",
"protein_id": "ENSP00000260197.6",
"transcript_support_level": 1,
"aa_start": 1392,
"aa_end": null,
"aa_length": 2214,
"cds_start": 4176,
"cds_end": null,
"cds_length": 6645,
"cdna_start": 4194,
"cdna_end": null,
"cdna_length": 10863,
"mane_select": "NM_003105.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORL1",
"gene_hgnc_id": 11185,
"hgvs_c": "c.1008C>G",
"hgvs_p": "p.Asn336Lys",
"transcript": "ENST00000525532.5",
"protein_id": "ENSP00000434634.1",
"transcript_support_level": 2,
"aa_start": 336,
"aa_end": null,
"aa_length": 1158,
"cds_start": 1008,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORL1",
"gene_hgnc_id": 11185,
"hgvs_c": "c.906C>G",
"hgvs_p": "p.Asn302Lys",
"transcript": "ENST00000534286.5",
"protein_id": "ENSP00000436447.1",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 1124,
"cds_start": 906,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORL1",
"gene_hgnc_id": 11185,
"hgvs_c": "c.714C>G",
"hgvs_p": "p.Asn238Lys",
"transcript": "ENST00000532694.5",
"protein_id": "ENSP00000432131.1",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 1060,
"cds_start": 714,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SORL1",
"gene_hgnc_id": 11185,
"dbsnp": "rs2276412",
"frequency_reference_population": 6.8406e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8406e-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": 0.6695347428321838,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.572,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8389,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.373,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000260197.12",
"gene_symbol": "SORL1",
"hgnc_id": 11185,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4176C>G",
"hgvs_p": "p.Asn1392Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}