← 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: 3-132477995-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=132477995&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 132477995,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000260818.11",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"hgvs_c": "c.2564A>G",
"hgvs_p": "p.Asn855Ser",
"transcript": "NM_015268.4",
"protein_id": "NP_056083.3",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 2243,
"cds_start": 2564,
"cds_end": null,
"cds_length": 6732,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": "ENST00000260818.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"hgvs_c": "c.2564A>G",
"hgvs_p": "p.Asn855Ser",
"transcript": "ENST00000260818.11",
"protein_id": "ENSP00000260818.6",
"transcript_support_level": 1,
"aa_start": 855,
"aa_end": null,
"aa_length": 2243,
"cds_start": 2564,
"cds_end": null,
"cds_length": 6732,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": "NM_015268.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"hgvs_c": "c.2579A>G",
"hgvs_p": "p.Asn860Ser",
"transcript": "NM_001329126.2",
"protein_id": "NP_001316055.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 2248,
"cds_start": 2579,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 7769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"hgvs_c": "c.2579A>G",
"hgvs_p": "p.Asn860Ser",
"transcript": "XM_047447819.1",
"protein_id": "XP_047303775.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 2248,
"cds_start": 2579,
"cds_end": null,
"cds_length": 6747,
"cdna_start": 6613,
"cdna_end": null,
"cdna_length": 11531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"hgvs_c": "c.2564A>G",
"hgvs_p": "p.Asn855Ser",
"transcript": "XM_047447820.1",
"protein_id": "XP_047303776.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 2243,
"cds_start": 2564,
"cds_end": null,
"cds_length": 6732,
"cdna_start": 6598,
"cdna_end": null,
"cdna_length": 11516,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"hgvs_c": "n.401A>G",
"hgvs_p": null,
"transcript": "ENST00000464766.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 775,
"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": 24,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"hgvs_c": "n.*712A>G",
"hgvs_p": null,
"transcript": "ENST00000650455.1",
"protein_id": "ENSP00000496825.1",
"transcript_support_level": null,
"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": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"hgvs_c": "n.*712A>G",
"hgvs_p": null,
"transcript": "ENST00000650455.1",
"protein_id": "ENSP00000496825.1",
"transcript_support_level": null,
"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": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAJC13",
"gene_hgnc_id": 30343,
"dbsnp": "rs387907571",
"frequency_reference_population": 0.000016231334,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000144853,
"gnomad_genomes_af": 0.0000328748,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8105332851409912,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.704,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1618,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.706,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,PP5,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000260818.11",
"gene_symbol": "DNAJC13",
"hgnc_id": 30343,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2564A>G",
"hgvs_p": "p.Asn855Ser"
}
],
"clinvar_disease": " late-onset,Essential tremor,Parkinson disease,Parkinson disease 21",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Parkinson disease, late-onset|Essential tremor|Parkinson disease 21",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}