← 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: 16-66925016-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66925016&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RRAD",
"hgnc_id": 10446,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004165.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0795,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13235589861869812,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 306,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004165.3",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299759.11",
"protein_coding": true,
"protein_id": "NP_004156.1",
"strand": false,
"transcript": "NM_004165.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 306,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000299759.11",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004165.3",
"protein_coding": true,
"protein_id": "ENSP00000299759.6",
"strand": false,
"transcript": "ENST00000299759.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 315,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001128850.2",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122322.1",
"strand": false,
"transcript": "NM_001128850.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000889788.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559848.1",
"strand": false,
"transcript": "ENST00000889788.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 270,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000889790.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559849.1",
"strand": false,
"transcript": "ENST00000889790.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": 271,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000889793.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559852.1",
"strand": false,
"transcript": "ENST00000889793.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1354,
"cdna_start": 200,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957037.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627096.1",
"strand": false,
"transcript": "ENST00000957037.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1458,
"cdna_start": 305,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957038.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627097.1",
"strand": false,
"transcript": "ENST00000957038.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 225,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957039.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627098.1",
"strand": false,
"transcript": "ENST00000957039.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 374,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957040.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627099.1",
"strand": false,
"transcript": "ENST00000957040.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 303,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957041.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627100.1",
"strand": false,
"transcript": "ENST00000957041.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 369,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957042.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627101.1",
"strand": false,
"transcript": "ENST00000957042.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 242,
"cds_end": null,
"cds_length": 927,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957045.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627104.1",
"strand": false,
"transcript": "ENST00000957045.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 306,
"cds_end": null,
"cds_length": 900,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957043.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627102.1",
"strand": false,
"transcript": "ENST00000957043.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 215,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": 307,
"cds_end": null,
"cds_length": 648,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000889795.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559854.1",
"strand": false,
"transcript": "ENST00000889795.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 215,
"aa_ref": "A",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1120,
"cdna_start": 245,
"cds_end": null,
"cds_length": 648,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957044.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ala55Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627103.1",
"strand": false,
"transcript": "ENST00000957044.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 160,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 484,
"cdna_start": null,
"cds_end": null,
"cds_length": 483,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566577.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.-65C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462559.1",
"strand": true,
"transcript": "ENST00000566577.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 134,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 409,
"cdna_start": null,
"cds_end": null,
"cds_length": 407,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000568915.5",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.-44C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461995.1",
"strand": true,
"transcript": "ENST00000568915.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1010302141",
"effect": "missense_variant",
"frequency_reference_population": 7.9272974e-7,
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.9273e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.103,
"pos": 66925016,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.045,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004165.3"
}
]
}