← 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: 10-78009515-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=78009515&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 78009515,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000372371.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "c.1909+22G>A",
"hgvs_p": null,
"transcript": "NM_007055.4",
"protein_id": "NP_008986.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1390,
"cds_start": -4,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": "ENST00000372371.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "c.1909+22G>A",
"hgvs_p": null,
"transcript": "ENST00000372371.8",
"protein_id": "ENSP00000361446.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1390,
"cds_start": -4,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": "NM_007055.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "c.1768+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698731.1",
"protein_id": "ENSP00000513898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.131+22G>A",
"hgvs_p": null,
"transcript": "ENST00000472014.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.570+349G>A",
"hgvs_p": null,
"transcript": "ENST00000473588.2",
"protein_id": "ENSP00000473389.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.1488+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698728.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.3034+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698729.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.3034+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698730.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.*770+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698732.1",
"protein_id": "ENSP00000513899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.*1096+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698733.1",
"protein_id": "ENSP00000513900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.1909+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698734.1",
"protein_id": "ENSP00000513901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.2024+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698735.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.2024+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698736.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.2024+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698737.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.2024+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698738.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"hgvs_c": "n.2024+22G>A",
"hgvs_p": null,
"transcript": "ENST00000698739.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLR3A",
"gene_hgnc_id": 30074,
"dbsnp": "rs191875469",
"frequency_reference_population": 0.0024086204,
"hom_count_reference_population": 10,
"allele_count_reference_population": 3888,
"gnomad_exomes_af": 0.00249889,
"gnomad_genomes_af": 0.00154248,
"gnomad_exomes_ac": 3653,
"gnomad_genomes_ac": 235,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.768,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP5_Very_Strong,BP4,BS2_Supporting",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 2,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BP4",
"BS2_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000372371.8",
"gene_symbol": "POLR3A",
"hgnc_id": 30074,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1909+22G>A",
"hgvs_p": null
}
],
"clinvar_disease": " ataxia, hypodontia, hypomyelination syndrome,Hereditary ataxia,Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism,Inborn genetic diseases,Leukoencephalopathy,Movement disorder,Neonatal pseudo-hydrocephalic progeroid syndrome,POLR-related leukodystrophy,POLR3A-related disorder,POLR3A-related neurological disorders,Spastic ataxia,not provided,not specified",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:22 LP:4 US:2 O:2",
"phenotype_combined": "not provided|Neonatal pseudo-hydrocephalic progeroid syndrome|Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome|POLR3A-related neurological disorders|not specified|POLR3A-related disorder|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism;Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome;Neonatal pseudo-hydrocephalic progeroid syndrome|Inborn genetic diseases|POLR-related leukodystrophy|Spastic ataxia|Movement disorder|Hereditary ataxia",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}