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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: 2-86082987-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86082987&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86082987,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_015425.6",
"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": 34,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "c.817+95G>A",
"hgvs_p": null,
"transcript": "NM_015425.6",
"protein_id": "NP_056240.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1720,
"cds_start": null,
"cds_end": null,
"cds_length": 5163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263857.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015425.6"
},
{
"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": 34,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "c.817+95G>A",
"hgvs_p": null,
"transcript": "ENST00000263857.11",
"protein_id": "ENSP00000263857.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1720,
"cds_start": null,
"cds_end": null,
"cds_length": 5163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015425.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263857.11"
},
{
"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": 34,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "c.817+95G>A",
"hgvs_p": null,
"transcript": "ENST00000409681.1",
"protein_id": "ENSP00000386300.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1659,
"cds_start": null,
"cds_end": null,
"cds_length": 4980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409681.1"
},
{
"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": 32,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "c.817+95G>A",
"hgvs_p": null,
"transcript": "ENST00000931492.1",
"protein_id": "ENSP00000601551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1637,
"cds_start": null,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "n.1016G>A",
"hgvs_p": null,
"transcript": "ENST00000684177.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000684177.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "n.*247+95G>A",
"hgvs_p": null,
"transcript": "ENST00000424089.5",
"protein_id": "ENSP00000397321.1",
"transcript_support_level": 3,
"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": "ENST00000424089.5"
},
{
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "n.914+95G>A",
"hgvs_p": null,
"transcript": "ENST00000486964.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000486964.5"
},
{
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "n.919+95G>A",
"hgvs_p": null,
"transcript": "ENST00000683266.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000683266.1"
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "n.731+95G>A",
"hgvs_p": null,
"transcript": "ENST00000684556.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000684556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"hgvs_c": "n.*428G>A",
"hgvs_p": null,
"transcript": "ENST00000409024.3",
"protein_id": "ENSP00000386423.3",
"transcript_support_level": 3,
"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": "ENST00000409024.3"
}
],
"gene_symbol": "POLR1A",
"gene_hgnc_id": 17264,
"dbsnp": "rs2288118",
"frequency_reference_population": 0.805544,
"hom_count_reference_population": 308082,
"allele_count_reference_population": 752014,
"gnomad_exomes_af": 0.820527,
"gnomad_genomes_af": 0.728498,
"gnomad_exomes_ac": 641291,
"gnomad_genomes_ac": 110723,
"gnomad_exomes_homalt": 265599,
"gnomad_genomes_homalt": 42483,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.094,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_015425.6",
"gene_symbol": "POLR1A",
"hgnc_id": 17264,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.817+95G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}