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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: 1-54018097-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54018097&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 54018097,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001010978.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "NM_001010978.4",
"protein_id": "NP_001010978.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 205,
"cds_start": 16,
"cds_end": null,
"cds_length": 618,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": "ENST00000371360.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010978.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "ENST00000371360.2",
"protein_id": "ENSP00000360411.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 205,
"cds_start": 16,
"cds_end": null,
"cds_length": 618,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": "NM_001010978.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371360.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.80C>G",
"hgvs_p": "p.Pro27Arg",
"transcript": "ENST00000420619.5",
"protein_id": "ENSP00000411017.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 166,
"cds_start": 80,
"cds_end": null,
"cds_length": 501,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420619.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "ENST00000545928.5",
"protein_id": "ENSP00000445871.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 162,
"cds_start": 16,
"cds_end": null,
"cds_length": 489,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545928.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "ENST00000371362.7",
"protein_id": "ENSP00000360413.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 116,
"cds_start": 16,
"cds_end": null,
"cds_length": 351,
"cdna_start": 76,
"cdna_end": null,
"cdna_length": 654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371362.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "ENST00000882503.1",
"protein_id": "ENSP00000552562.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 204,
"cds_start": 16,
"cds_end": null,
"cds_length": 615,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882503.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.80C>G",
"hgvs_p": "p.Pro27Arg",
"transcript": "NM_001276392.2",
"protein_id": "NP_001263321.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 166,
"cds_start": 80,
"cds_end": null,
"cds_length": 501,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276392.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "NM_001276393.2",
"protein_id": "NP_001263322.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 162,
"cds_start": 16,
"cds_end": null,
"cds_length": 489,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276393.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "NM_001276394.2",
"protein_id": "NP_001263323.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 116,
"cds_start": 16,
"cds_end": null,
"cds_length": 351,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276394.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "NM_001276395.2",
"protein_id": "NP_001263324.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 100,
"cds_start": 16,
"cds_end": null,
"cds_length": 303,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276395.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "XM_011541446.2",
"protein_id": "XP_011539748.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 204,
"cds_start": 16,
"cds_end": null,
"cds_length": 615,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541446.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala",
"transcript": "XM_017001264.2",
"protein_id": "XP_016856753.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 100,
"cds_start": 16,
"cds_end": null,
"cds_length": 303,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001264.2"
}
],
"gene_symbol": "LDLRAD1",
"gene_hgnc_id": 32069,
"dbsnp": "rs138056957",
"frequency_reference_population": 0.00011654289,
"hom_count_reference_population": 0,
"allele_count_reference_population": 188,
"gnomad_exomes_af": 0.000114305,
"gnomad_genomes_af": 0.000138029,
"gnomad_exomes_ac": 167,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008631974458694458,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0915,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.605,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001010978.4",
"gene_symbol": "LDLRAD1",
"hgnc_id": 32069,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.16C>G",
"hgvs_p": "p.Pro6Ala"
}
],
"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
}