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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: 11-36227355-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=36227355&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 36227355,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_174902.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.725T>A",
"hgvs_p": "p.Val242Glu",
"transcript": "NM_174902.4",
"protein_id": "NP_777562.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 345,
"cds_start": 725,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315571.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174902.4"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.725T>A",
"hgvs_p": "p.Val242Glu",
"transcript": "ENST00000315571.6",
"protein_id": "ENSP00000318607.5",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 345,
"cds_start": 725,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174902.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315571.6"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Val193Glu",
"transcript": "ENST00000528989.5",
"protein_id": "ENSP00000433954.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 296,
"cds_start": 578,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528989.5"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.722T>A",
"hgvs_p": "p.Val241Glu",
"transcript": "ENST00000872891.1",
"protein_id": "ENSP00000542950.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 344,
"cds_start": 722,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872891.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.695T>A",
"hgvs_p": "p.Val232Glu",
"transcript": "ENST00000524419.5",
"protein_id": "ENSP00000434313.1",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 335,
"cds_start": 695,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524419.5"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.599T>A",
"hgvs_p": "p.Val200Glu",
"transcript": "ENST00000872890.1",
"protein_id": "ENSP00000542949.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 303,
"cds_start": 599,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872890.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.596T>A",
"hgvs_p": "p.Val199Glu",
"transcript": "ENST00000872892.1",
"protein_id": "ENSP00000542951.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 302,
"cds_start": 596,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872892.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.578T>A",
"hgvs_p": "p.Val193Glu",
"transcript": "NM_001304263.2",
"protein_id": "NP_001291192.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 296,
"cds_start": 578,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304263.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.452T>A",
"hgvs_p": "p.Val151Glu",
"transcript": "ENST00000913841.1",
"protein_id": "ENSP00000583900.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 254,
"cds_start": 452,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913841.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "c.362T>A",
"hgvs_p": "p.Val121Glu",
"transcript": "NM_001304264.2",
"protein_id": "NP_001291193.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 224,
"cds_start": 362,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304264.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "n.563T>A",
"hgvs_p": null,
"transcript": "ENST00000529759.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000529759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "n.441T>A",
"hgvs_p": null,
"transcript": "ENST00000534091.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000534091.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"hgvs_c": "n.409-1805T>A",
"hgvs_p": null,
"transcript": "ENST00000532490.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000532490.1"
}
],
"gene_symbol": "LDLRAD3",
"gene_hgnc_id": 27046,
"dbsnp": "rs1455833747",
"frequency_reference_population": 0.00006010025,
"hom_count_reference_population": 0,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000643066,
"gnomad_genomes_af": 0.0000197081,
"gnomad_exomes_ac": 94,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7329831123352051,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.652,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3435,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.223,
"phylop100way_prediction": "Benign",
"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": 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": "NM_174902.4",
"gene_symbol": "LDLRAD3",
"hgnc_id": 27046,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.725T>A",
"hgvs_p": "p.Val242Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}