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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: 4-57020910-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=57020910&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 57020910,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000938.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2335A>G",
"hgvs_p": "p.Ile779Val",
"transcript": "NM_000938.3",
"protein_id": "NP_000929.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2335,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314595.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000938.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2335A>G",
"hgvs_p": "p.Ile779Val",
"transcript": "ENST00000314595.6",
"protein_id": "ENSP00000312735.5",
"transcript_support_level": 1,
"aa_start": 779,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2335,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000938.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314595.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2335A>G",
"hgvs_p": "p.Ile779Val",
"transcript": "ENST00000381227.5",
"protein_id": "ENSP00000370625.1",
"transcript_support_level": 5,
"aa_start": 779,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2335,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381227.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2314A>G",
"hgvs_p": "p.Ile772Val",
"transcript": "NM_001303269.2",
"protein_id": "NP_001290198.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303269.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2314A>G",
"hgvs_p": "p.Ile772Val",
"transcript": "ENST00000441246.6",
"protein_id": "ENSP00000391452.2",
"transcript_support_level": 2,
"aa_start": 772,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441246.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Ile704Val",
"transcript": "NM_001303268.2",
"protein_id": "NP_001290197.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2110,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303268.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ile672Val",
"transcript": "ENST00000431623.6",
"protein_id": "ENSP00000391096.3",
"transcript_support_level": 2,
"aa_start": 672,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2014,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431623.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "n.1733A>G",
"hgvs_p": null,
"transcript": "ENST00000478188.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000478188.5"
}
],
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"dbsnp": "rs370786493",
"frequency_reference_population": 0.000055749693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000532861,
"gnomad_genomes_af": 0.0000788333,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32854700088500977,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.0662,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000938.3",
"gene_symbol": "POLR2B",
"hgnc_id": 9188,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2335A>G",
"hgvs_p": "p.Ile779Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}