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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: 12-55827493-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55827493&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55827493,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032364.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "NM_032364.6",
"protein_id": "NP_115740.5",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000678005.2",
"protein_id": "ENSP00000504134.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257390",
"gene_hgnc_id": null,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"transcript": "ENST00000546837.5",
"protein_id": "ENSP00000447000.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 522,
"cds_start": 53,
"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"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "NM_001394687.1",
"protein_id": "NP_001381616.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "NM_001394688.1",
"protein_id": "NP_001381617.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "NM_001394689.1",
"protein_id": "NP_001381618.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000317287.5",
"protein_id": "ENSP00000317500.5",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000357606.7",
"protein_id": "ENSP00000350223.3",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000546957.2",
"protein_id": "ENSP00000448876.2",
"transcript_support_level": 3,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000547445.2",
"protein_id": "ENSP00000450196.2",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000920411.1",
"protein_id": "ENSP00000590470.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000920412.1",
"protein_id": "ENSP00000590471.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000920414.1",
"protein_id": "ENSP00000590473.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000955944.1",
"protein_id": "ENSP00000626003.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 702,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000920413.1",
"protein_id": "ENSP00000590472.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 701,
"cds_start": 1166,
"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": "R",
"aa_alt": "Q",
"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.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "NM_001394690.1",
"protein_id": "NP_001381619.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 662,
"cds_start": 1166,
"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"
}
],
"gene_symbol": "DNAJC14",
"gene_hgnc_id": 24581,
"dbsnp": "rs548413242",
"frequency_reference_population": 0.00008234858,
"hom_count_reference_population": 0,
"allele_count_reference_population": 132,
"gnomad_exomes_af": 0.0000847854,
"gnomad_genomes_af": 0.000059125,
"gnomad_exomes_ac": 123,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011797577142715454,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0599,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.386,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032364.6",
"gene_symbol": "DNAJC14",
"hgnc_id": 24581,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Arg389Gln"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000546837.5",
"gene_symbol": "ENSG00000257390",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}