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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: 2-31529370-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=31529370&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 31529370,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000348.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"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.635C>G",
"hgvs_p": "p.Pro212Arg",
"transcript": "NM_000348.4",
"protein_id": "NP_000339.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 254,
"cds_start": 635,
"cds_end": null,
"cds_length": 765,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "ENST00000622030.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000348.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.635C>G",
"hgvs_p": "p.Pro212Arg",
"transcript": "ENST00000622030.2",
"protein_id": "ENSP00000477587.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 254,
"cds_start": 635,
"cds_end": null,
"cds_length": 765,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "NM_000348.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622030.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.737C>G",
"hgvs_p": "p.Pro246Arg",
"transcript": "ENST00000882642.1",
"protein_id": "ENSP00000552701.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 288,
"cds_start": 737,
"cds_end": null,
"cds_length": 867,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882642.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.533C>G",
"hgvs_p": "p.Pro178Arg",
"transcript": "ENST00000882643.1",
"protein_id": "ENSP00000552702.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 220,
"cds_start": 533,
"cds_end": null,
"cds_length": 663,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882643.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.413C>G",
"hgvs_p": "p.Pro138Arg",
"transcript": "XM_011533069.3",
"protein_id": "XP_011531371.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 180,
"cds_start": 413,
"cds_end": null,
"cds_length": 543,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533069.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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.380C>G",
"hgvs_p": "p.Pro127Arg",
"transcript": "XM_011533072.3",
"protein_id": "XP_011531374.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 169,
"cds_start": 380,
"cds_end": null,
"cds_length": 510,
"cdna_start": 808,
"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+1670G>C",
"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": "rs121434252",
"frequency_reference_population": 0.000010946653,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000109467,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8533121347427368,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.8879,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.923,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS3,PP2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PS3",
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000348.4",
"gene_symbol": "SRD5A2",
"hgnc_id": 11285,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Pro212Arg"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PS3",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000435713.1",
"gene_symbol": "ENSG00000228563",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.255+1670G>C",
"hgvs_p": null
}
],
"clinvar_disease": "3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}