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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: 2-31529310-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=31529310&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 31529310,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000348.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A2",
"gene_hgnc_id": 11285,
"hgvs_c": "c.695A>C",
"hgvs_p": "p.His232Pro",
"transcript": "NM_000348.4",
"protein_id": "NP_000339.2",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 254,
"cds_start": 695,
"cds_end": null,
"cds_length": 765,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "ENST00000622030.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000348.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A2",
"gene_hgnc_id": 11285,
"hgvs_c": "c.695A>C",
"hgvs_p": "p.His232Pro",
"transcript": "ENST00000622030.2",
"protein_id": "ENSP00000477587.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 254,
"cds_start": 695,
"cds_end": null,
"cds_length": 765,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "NM_000348.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622030.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A2",
"gene_hgnc_id": 11285,
"hgvs_c": "c.797A>C",
"hgvs_p": "p.His266Pro",
"transcript": "ENST00000882642.1",
"protein_id": "ENSP00000552701.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 288,
"cds_start": 797,
"cds_end": null,
"cds_length": 867,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882642.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A2",
"gene_hgnc_id": 11285,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.His198Pro",
"transcript": "ENST00000882643.1",
"protein_id": "ENSP00000552702.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 220,
"cds_start": 593,
"cds_end": null,
"cds_length": 663,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882643.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A2",
"gene_hgnc_id": 11285,
"hgvs_c": "c.473A>C",
"hgvs_p": "p.His158Pro",
"transcript": "XM_011533069.3",
"protein_id": "XP_011531371.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 180,
"cds_start": 473,
"cds_end": null,
"cds_length": 543,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533069.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A2",
"gene_hgnc_id": 11285,
"hgvs_c": "c.440A>C",
"hgvs_p": "p.His147Pro",
"transcript": "XM_011533072.3",
"protein_id": "XP_011531374.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 169,
"cds_start": 440,
"cds_end": null,
"cds_length": 510,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533072.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228563",
"gene_hgnc_id": null,
"hgvs_c": "n.255+1610T>G",
"hgvs_p": null,
"transcript": "ENST00000435713.1",
"protein_id": null,
"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": 646,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435713.1"
}
],
"gene_symbol": "SRD5A2",
"gene_hgnc_id": 11285,
"dbsnp": "rs748899308",
"frequency_reference_population": 0.0000020526631,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205266,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.923551082611084,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.9004,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.957,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.08,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000348.4",
"gene_symbol": "SRD5A2",
"hgnc_id": 11285,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.695A>C",
"hgvs_p": "p.His232Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000435713.1",
"gene_symbol": "ENSG00000228563",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.255+1610T>G",
"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
}