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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: 10-13693947-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13693947&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FRMD4A",
"hgnc_id": 25491,
"hgvs_c": "c.1167T>C",
"hgvs_p": "p.Gly389Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001318337.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_score": -11,
"allele_count_reference_population": 174004,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "G",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6861,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 3120,
"cds_start": 1068,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_018027.5",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.1068T>C",
"hgvs_p": "p.Gly356Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357447.7",
"protein_coding": true,
"protein_id": "NP_060497.3",
"strand": false,
"transcript": "NM_018027.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "G",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6861,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 3120,
"cds_start": 1068,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000357447.7",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.1068T>C",
"hgvs_p": "p.Gly356Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018027.5",
"protein_coding": true,
"protein_id": "ENSP00000350032.2",
"strand": false,
"transcript": "ENST00000357447.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "G",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6648,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 3219,
"cds_start": 1167,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001318337.2",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.1167T>C",
"hgvs_p": "p.Gly389Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305266.1",
"strand": false,
"transcript": "NM_001318337.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "G",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6898,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 3168,
"cds_start": 1116,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001318336.2",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.1116T>C",
"hgvs_p": "p.Gly372Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305265.1",
"strand": false,
"transcript": "NM_001318336.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "G",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 3153,
"cds_start": 1068,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000495956.3",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.1068T>C",
"hgvs_p": "p.Gly356Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488764.2",
"strand": false,
"transcript": "ENST00000495956.3",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 730,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5915,
"cdna_start": 531,
"cds_end": null,
"cds_length": 2193,
"cds_start": 141,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318338.2",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.141T>C",
"hgvs_p": "p.Gly47Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305267.1",
"strand": false,
"transcript": "NM_001318338.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 524,
"aa_ref": "G",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1167,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000264546.10",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.1167T>C",
"hgvs_p": "p.Gly389Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264546.6",
"strand": false,
"transcript": "ENST00000264546.10",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 76,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": 570,
"cds_end": null,
"cds_length": 233,
"cds_start": 141,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000632570.1",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.141T>C",
"hgvs_p": "p.Gly47Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487974.1",
"strand": false,
"transcript": "ENST00000632570.1",
"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": 1741,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000342409.3",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "n.1497T>C",
"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": "ENST00000342409.3",
"transcript_support_level": 2
},
{
"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": 2731,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000492155.5",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "n.953T>C",
"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": "ENST00000492155.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1236,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000632314.1",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "n.322T>C",
"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": "ENST00000632314.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 34,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 495,
"cdna_start": null,
"cds_end": null,
"cds_length": 105,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000477221.2",
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"hgvs_c": "c.*36T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488325.1",
"strand": true,
"transcript": "ENST00000477221.2",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2296596",
"effect": "synonymous_variant",
"frequency_reference_population": 0.10900403,
"gene_hgnc_id": 25491,
"gene_symbol": "FRMD4A",
"gnomad_exomes_ac": 154823,
"gnomad_exomes_af": 0.107073,
"gnomad_exomes_homalt": 8552,
"gnomad_genomes_ac": 19181,
"gnomad_genomes_af": 0.127577,
"gnomad_genomes_homalt": 1272,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 9824,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.496,
"pos": 13693947,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001318337.2"
}
]
}