← 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: 2-112574844-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=112574844&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 112574844,
"ref": "T",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000263331.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2526-3T>A",
"hgvs_p": null,
"transcript": "NM_019014.6",
"protein_id": "NP_061887.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7527,
"mane_select": "ENST00000263331.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2526-3T>A",
"hgvs_p": null,
"transcript": "ENST00000263331.10",
"protein_id": "ENSP00000263331.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7527,
"mane_select": "NM_019014.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.1977-3T>A",
"hgvs_p": null,
"transcript": "ENST00000409894.7",
"protein_id": "ENSP00000387143.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": -4,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "n.*2396-3T>A",
"hgvs_p": null,
"transcript": "ENST00000333990.10",
"protein_id": "ENSP00000334589.6",
"transcript_support_level": 1,
"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": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "n.*773-3T>A",
"hgvs_p": null,
"transcript": "ENST00000448770.5",
"protein_id": "ENSP00000390274.1",
"transcript_support_level": 1,
"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": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2664-3T>A",
"hgvs_p": null,
"transcript": "NM_001371969.1",
"protein_id": "NP_001358898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": -4,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2640-3T>A",
"hgvs_p": null,
"transcript": "NM_001282772.2",
"protein_id": "NP_001269701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2640-3T>A",
"hgvs_p": null,
"transcript": "ENST00000541869.5",
"protein_id": "ENSP00000444136.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2358-3T>A",
"hgvs_p": null,
"transcript": "NM_001137604.3",
"protein_id": "NP_001131076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2358-3T>A",
"hgvs_p": null,
"transcript": "ENST00000417433.6",
"protein_id": "ENSP00000405358.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2109-3T>A",
"hgvs_p": null,
"transcript": "NM_001282777.2",
"protein_id": "NP_001269706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": -4,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2109-3T>A",
"hgvs_p": null,
"transcript": "NM_001282779.2",
"protein_id": "NP_001269708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": -4,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.2109-3T>A",
"hgvs_p": null,
"transcript": "NM_001371970.1",
"protein_id": "NP_001358899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": -4,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.1977-3T>A",
"hgvs_p": null,
"transcript": "NM_001282774.2",
"protein_id": "NP_001269703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": -4,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.1893-3T>A",
"hgvs_p": null,
"transcript": "NM_001282776.2",
"protein_id": "NP_001269705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.1893-3T>A",
"hgvs_p": null,
"transcript": "NM_001371971.1",
"protein_id": "NP_001358900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.1893-3T>A",
"hgvs_p": null,
"transcript": "ENST00000537335.5",
"protein_id": "ENSP00000437914.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"hgvs_c": "c.681-3T>A",
"hgvs_p": null,
"transcript": "ENST00000458012.2",
"protein_id": "ENSP00000394408.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLR1B",
"gene_hgnc_id": 20454,
"dbsnp": "rs10169344",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.3619999885559082,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.074,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.3,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.180148874797554,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000263331.10",
"gene_symbol": "POLR1B",
"hgnc_id": 20454,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2526-3T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}