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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: 16-66923524-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66923524&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RRAD",
"hgnc_id": 10446,
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004165.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": 0.5144,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8820453882217407,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 783,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004165.3",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 783,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000299759.11",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 792,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001128850.2",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889788.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 747,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889790.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": 748,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889793.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1354,
"cdna_start": 677,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957037.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1458,
"cdna_start": 782,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957038.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 702,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957039.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 851,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957040.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 780,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957041.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 846,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957042.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 719,
"cds_end": null,
"cds_length": 927,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957045.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"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": "L",
"aa_end": null,
"aa_length": 299,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 756,
"cds_end": null,
"cds_length": 900,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957043.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ser205Leu",
"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": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889795.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.371-1171C>T",
"hgvs_p": null,
"intron_rank": 2,
"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": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1120,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957044.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.371-1171C>T",
"hgvs_p": null,
"intron_rank": 2,
"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": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566577.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.324+89C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462559.1",
"strand": false,
"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": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000568915.5",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "c.237+322C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461995.1",
"strand": false,
"transcript": "ENST00000568915.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000567791.1",
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"hgvs_c": "n.375C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000567791.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs747510316",
"effect": "missense_variant",
"frequency_reference_population": 0.000015575548,
"gene_hgnc_id": 10446,
"gene_symbol": "RRAD",
"gnomad_exomes_ac": 18,
"gnomad_exomes_af": 0.0000123774,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000464148,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.002,
"pos": 66923524,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.779,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_004165.3"
}
]
}