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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: 12-55827601-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55827601&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55827601,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032364.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "NM_032364.6",
"protein_id": "NP_115740.5",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000678005.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032364.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000678005.2",
"protein_id": "ENSP00000504134.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032364.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678005.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "NM_001394687.1",
"protein_id": "NP_001381616.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394687.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "NM_001394688.1",
"protein_id": "NP_001381617.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394688.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "NM_001394689.1",
"protein_id": "NP_001381618.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394689.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000317287.5",
"protein_id": "ENSP00000317500.5",
"transcript_support_level": 2,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317287.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000357606.7",
"protein_id": "ENSP00000350223.3",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357606.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000546957.2",
"protein_id": "ENSP00000448876.2",
"transcript_support_level": 3,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546957.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000547445.2",
"protein_id": "ENSP00000450196.2",
"transcript_support_level": 2,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547445.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000920411.1",
"protein_id": "ENSP00000590470.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920411.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000920412.1",
"protein_id": "ENSP00000590471.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920412.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000920414.1",
"protein_id": "ENSP00000590473.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920414.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000955944.1",
"protein_id": "ENSP00000626003.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 702,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955944.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "ENST00000920413.1",
"protein_id": "ENSP00000590472.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 701,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920413.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val",
"transcript": "NM_001394690.1",
"protein_id": "NP_001381619.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 662,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257390",
"gene_hgnc_id": null,
"hgvs_c": "c.-56G>T",
"hgvs_p": null,
"transcript": "ENST00000546837.5",
"protein_id": "ENSP00000447000.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": null,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546837.5"
}
],
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"dbsnp": "rs766461626",
"frequency_reference_population": 0.000043537755,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000460273,
"gnomad_genomes_af": 0.0000197184,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08247721195220947,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.1859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.106,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032364.6",
"gene_symbol": "DNAJC14",
"hgnc_id": 24581,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Gly353Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000546837.5",
"gene_symbol": "ENSG00000257390",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-56G>T",
"hgvs_p": null
}
],
"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
}