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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: 14-93779306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=93779306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 93779306,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_178013.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr",
"transcript": "NM_178013.4",
"protein_id": "NP_821092.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 153,
"cds_start": 99,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393140.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178013.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr",
"transcript": "ENST00000393140.6",
"protein_id": "ENSP00000376848.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 153,
"cds_start": 99,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178013.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393140.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr",
"transcript": "ENST00000393143.5",
"protein_id": "ENSP00000376851.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 153,
"cds_start": 99,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393143.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr",
"transcript": "ENST00000316227.3",
"protein_id": "ENSP00000320948.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 124,
"cds_start": 99,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316227.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "n.99G>A",
"hgvs_p": null,
"transcript": "ENST00000477603.5",
"protein_id": "ENSP00000434370.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000477603.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr",
"transcript": "ENST00000907899.1",
"protein_id": "ENSP00000577958.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 153,
"cds_start": 99,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907899.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr",
"transcript": "ENST00000907900.1",
"protein_id": "ENSP00000577959.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 153,
"cds_start": 99,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907900.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr",
"transcript": "XM_011536456.3",
"protein_id": "XP_011534758.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 153,
"cds_start": 99,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536456.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr",
"transcript": "XM_047430966.1",
"protein_id": "XP_047286922.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 123,
"cds_start": 99,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430966.1"
}
],
"gene_symbol": "PRIMA1",
"gene_hgnc_id": 18319,
"dbsnp": "rs4900195",
"frequency_reference_population": 0.4608766,
"hom_count_reference_population": 168308,
"allele_count_reference_population": 711729,
"gnomad_exomes_af": 0.463466,
"gnomad_genomes_af": 0.437033,
"gnomad_exomes_ac": 645605,
"gnomad_genomes_ac": 66124,
"gnomad_exomes_homalt": 153542,
"gnomad_genomes_homalt": 14766,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.049,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_178013.4",
"gene_symbol": "PRIMA1",
"hgnc_id": 18319,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.99G>A",
"hgvs_p": "p.Thr33Thr"
}
],
"clinvar_disease": "Familial sleep-related hypermotor epilepsy,PRIMA1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|Familial sleep-related hypermotor epilepsy|PRIMA1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}