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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: 1-54009094-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54009094&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 54009094,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001010978.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.506G>T",
"hgvs_p": "p.Arg169Leu",
"transcript": "NM_001010978.4",
"protein_id": "NP_001010978.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 205,
"cds_start": 506,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371360.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010978.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.506G>T",
"hgvs_p": "p.Arg169Leu",
"transcript": "ENST00000371360.2",
"protein_id": "ENSP00000360411.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 205,
"cds_start": 506,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010978.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371360.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.389G>T",
"hgvs_p": "p.Arg130Leu",
"transcript": "ENST00000420619.5",
"protein_id": "ENSP00000411017.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 166,
"cds_start": 389,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420619.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Arg126Leu",
"transcript": "ENST00000545928.5",
"protein_id": "ENSP00000445871.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 162,
"cds_start": 377,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545928.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Arg80Leu",
"transcript": "ENST00000371362.7",
"protein_id": "ENSP00000360413.3",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 116,
"cds_start": 239,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371362.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "ENST00000882503.1",
"protein_id": "ENSP00000552562.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 204,
"cds_start": 503,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882503.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.389G>T",
"hgvs_p": "p.Arg130Leu",
"transcript": "NM_001276392.2",
"protein_id": "NP_001263321.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 166,
"cds_start": 389,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276392.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Arg126Leu",
"transcript": "NM_001276393.2",
"protein_id": "NP_001263322.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 162,
"cds_start": 377,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276393.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Arg80Leu",
"transcript": "NM_001276394.2",
"protein_id": "NP_001263323.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 116,
"cds_start": 239,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276394.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "XM_011541446.2",
"protein_id": "XP_011539748.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 204,
"cds_start": 503,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541446.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.*43G>T",
"hgvs_p": null,
"transcript": "NM_001276395.2",
"protein_id": "NP_001263324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276395.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.*7-1125G>T",
"hgvs_p": null,
"transcript": "XM_017001264.2",
"protein_id": "XP_016856753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001264.2"
}
],
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"dbsnp": "rs140538964",
"frequency_reference_population": 6.841143e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84114e-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": 0.08968329429626465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.378,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001010978.4",
"gene_symbol": "LDLRAD1",
"hgnc_id": 32069,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.506G>T",
"hgvs_p": "p.Arg169Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}