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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: 19-50506219-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50506219&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50506219,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138334.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "NM_001270639.2",
"protein_id": "NP_001257568.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000598418.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270639.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000598418.6",
"protein_id": "ENSP00000468956.2",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270639.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598418.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000601423.5",
"protein_id": "ENSP00000472116.1",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601423.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "NM_001270640.2",
"protein_id": "NP_001257569.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270640.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "NM_001270686.2",
"protein_id": "NP_001257615.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270686.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "NM_138334.4",
"protein_id": "NP_612207.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138334.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000884030.1",
"protein_id": "ENSP00000554089.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884030.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000884031.1",
"protein_id": "ENSP00000554090.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884031.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000884034.1",
"protein_id": "ENSP00000554093.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884034.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000884036.1",
"protein_id": "ENSP00000554095.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884036.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000950920.1",
"protein_id": "ENSP00000620979.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 188,
"cds_start": 521,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950920.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000950919.1",
"protein_id": "ENSP00000620978.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 176,
"cds_start": 485,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950919.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Val132Ala",
"transcript": "NM_001270641.2",
"protein_id": "NP_001257570.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 146,
"cds_start": 395,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270641.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Val132Ala",
"transcript": "ENST00000595669.5",
"protein_id": "ENSP00000468860.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 146,
"cds_start": 395,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595669.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Val132Ala",
"transcript": "ENST00000884032.1",
"protein_id": "ENSP00000554091.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 146,
"cds_start": 395,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884032.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Val132Ala",
"transcript": "ENST00000884033.1",
"protein_id": "ENSP00000554092.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 146,
"cds_start": 395,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884033.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Val132Ala",
"transcript": "ENST00000884035.1",
"protein_id": "ENSP00000554094.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 146,
"cds_start": 395,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884035.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Val132Ala",
"transcript": "ENST00000950921.1",
"protein_id": "ENSP00000620980.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 146,
"cds_start": 395,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950921.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Val109Ala",
"transcript": "ENST00000950918.1",
"protein_id": "ENSP00000620977.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 123,
"cds_start": 326,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950918.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "c.*38T>C",
"hgvs_p": null,
"transcript": "ENST00000594350.1",
"protein_id": "ENSP00000470628.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"hgvs_c": "n.*227T>C",
"hgvs_p": null,
"transcript": "ENST00000602146.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000602146.1"
}
],
"gene_symbol": "JOSD2",
"gene_hgnc_id": 28853,
"dbsnp": "rs1979321653",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7748633623123169,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6272,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.689,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138334.4",
"gene_symbol": "JOSD2",
"hgnc_id": 28853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala"
}
],
"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
}