← 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: 2-140233299-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=140233299&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 140233299,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018557.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP1B",
"gene_hgnc_id": 6693,
"hgvs_c": "c.13687G>A",
"hgvs_p": "p.Ala4563Thr",
"transcript": "NM_018557.3",
"protein_id": "NP_061027.2",
"transcript_support_level": null,
"aa_start": 4563,
"aa_end": null,
"aa_length": 4599,
"cds_start": 13687,
"cds_end": null,
"cds_length": 13800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389484.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018557.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP1B",
"gene_hgnc_id": 6693,
"hgvs_c": "c.13687G>A",
"hgvs_p": "p.Ala4563Thr",
"transcript": "ENST00000389484.8",
"protein_id": "ENSP00000374135.3",
"transcript_support_level": 1,
"aa_start": 4563,
"aa_end": null,
"aa_length": 4599,
"cds_start": 13687,
"cds_end": null,
"cds_length": 13800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018557.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389484.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP1B",
"gene_hgnc_id": 6693,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Ala761Thr",
"transcript": "ENST00000437977.5",
"protein_id": "ENSP00000415052.1",
"transcript_support_level": 5,
"aa_start": 761,
"aa_end": null,
"aa_length": 797,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437977.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP1B",
"gene_hgnc_id": 6693,
"hgvs_c": "c.13297G>A",
"hgvs_p": "p.Ala4433Thr",
"transcript": "XM_017004341.2",
"protein_id": "XP_016859830.1",
"transcript_support_level": null,
"aa_start": 4433,
"aa_end": null,
"aa_length": 4469,
"cds_start": 13297,
"cds_end": null,
"cds_length": 13410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004341.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP1B",
"gene_hgnc_id": 6693,
"hgvs_c": "c.8539G>A",
"hgvs_p": "p.Ala2847Thr",
"transcript": "XM_017004342.1",
"protein_id": "XP_016859831.1",
"transcript_support_level": null,
"aa_start": 2847,
"aa_end": null,
"aa_length": 2883,
"cds_start": 8539,
"cds_end": null,
"cds_length": 8652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300471",
"gene_hgnc_id": null,
"hgvs_c": "n.104+8421C>T",
"hgvs_p": null,
"transcript": "ENST00000772126.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772126.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300471",
"gene_hgnc_id": null,
"hgvs_c": "n.135+8421C>T",
"hgvs_p": null,
"transcript": "ENST00000772127.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772127.1"
}
],
"gene_symbol": "LRP1B",
"gene_hgnc_id": 6693,
"dbsnp": "rs140358724",
"frequency_reference_population": 0.0006920139,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1108,
"gnomad_exomes_af": 0.000717205,
"gnomad_genomes_af": 0.000450182,
"gnomad_exomes_ac": 1040,
"gnomad_genomes_ac": 68,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11767503619194031,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.271,
"revel_prediction": "Benign",
"alphamissense_score": 0.3155,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.724,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018557.3",
"gene_symbol": "LRP1B",
"hgnc_id": 6693,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.13687G>A",
"hgvs_p": "p.Ala4563Thr"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000772126.1",
"gene_symbol": "ENSG00000300471",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.104+8421C>T",
"hgvs_p": null
}
],
"clinvar_disease": "LRP1B-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "LRP1B-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}