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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: 4-57010789-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=57010789&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 57010789,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000314595.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Ala530Ala",
"transcript": "NM_000938.3",
"protein_id": "NP_000929.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1590,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": "ENST00000314595.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Ala530Ala",
"transcript": "ENST00000314595.6",
"protein_id": "ENSP00000312735.5",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1590,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": "NM_000938.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Ala530Ala",
"transcript": "ENST00000381227.5",
"protein_id": "ENSP00000370625.1",
"transcript_support_level": 5,
"aa_start": 530,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1590,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Ala523Ala",
"transcript": "NM_001303269.2",
"protein_id": "NP_001290198.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1167,
"cds_start": 1569,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Ala523Ala",
"transcript": "ENST00000441246.6",
"protein_id": "ENSP00000391452.2",
"transcript_support_level": 2,
"aa_start": 523,
"aa_end": null,
"aa_length": 1167,
"cds_start": 1569,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1365G>A",
"hgvs_p": "p.Ala455Ala",
"transcript": "NM_001303268.2",
"protein_id": "NP_001290197.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1365,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1269G>A",
"hgvs_p": "p.Ala423Ala",
"transcript": "ENST00000431623.6",
"protein_id": "ENSP00000391096.3",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 1067,
"cds_start": 1269,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "n.988G>A",
"hgvs_p": null,
"transcript": "ENST00000478188.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "n.214G>A",
"hgvs_p": null,
"transcript": "ENST00000510355.1",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"dbsnp": "rs1718878",
"frequency_reference_population": 0.35067278,
"hom_count_reference_population": 100575,
"allele_count_reference_population": 562813,
"gnomad_exomes_af": 0.348853,
"gnomad_genomes_af": 0.368072,
"gnomad_exomes_ac": 506866,
"gnomad_genomes_ac": 55947,
"gnomad_exomes_homalt": 90006,
"gnomad_genomes_homalt": 10569,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"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": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.223,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000314595.6",
"gene_symbol": "POLR2B",
"hgnc_id": 9188,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Ala530Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}