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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: 15-41837109-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41837109&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41837109,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001114632.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.904T>C",
"hgvs_p": "p.Tyr302His",
"transcript": "NM_001114632.2",
"protein_id": "NP_001108104.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 316,
"cds_start": 904,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397299.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114632.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.904T>C",
"hgvs_p": "p.Tyr302His",
"transcript": "ENST00000397299.9",
"protein_id": "ENSP00000380467.4",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 316,
"cds_start": 904,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001114632.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397299.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "JMJD7-PLA2G4B",
"gene_hgnc_id": 34449,
"hgvs_c": "c.702+558T>C",
"hgvs_p": null,
"transcript": "ENST00000382448.8",
"protein_id": "ENSP00000371886.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": null,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382448.8"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.946T>C",
"hgvs_p": "p.Tyr316His",
"transcript": "ENST00000922178.1",
"protein_id": "ENSP00000592237.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 330,
"cds_start": 946,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922178.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.910T>C",
"hgvs_p": "p.Tyr304His",
"transcript": "ENST00000864345.1",
"protein_id": "ENSP00000534404.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 318,
"cds_start": 910,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864345.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.607T>C",
"hgvs_p": "p.Tyr203His",
"transcript": "ENST00000408047.5",
"protein_id": "ENSP00000384174.1",
"transcript_support_level": 5,
"aa_start": 203,
"aa_end": null,
"aa_length": 217,
"cds_start": 607,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408047.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "JMJD7-PLA2G4B",
"gene_hgnc_id": 34449,
"hgvs_c": "c.702+558T>C",
"hgvs_p": null,
"transcript": "NM_005090.4",
"protein_id": "NP_005081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": null,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005090.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "JMJD7-PLA2G4B",
"gene_hgnc_id": 34449,
"hgvs_c": "c.702+558T>C",
"hgvs_p": null,
"transcript": "NM_001198588.2",
"protein_id": "NP_001185517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": null,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198588.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "JMJD7-PLA2G4B",
"gene_hgnc_id": 34449,
"hgvs_c": "c.702+558T>C",
"hgvs_p": null,
"transcript": "ENST00000342159.6",
"protein_id": "ENSP00000342785.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": null,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342159.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "n.473T>C",
"hgvs_p": null,
"transcript": "ENST00000478178.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000478178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7-PLA2G4B",
"gene_hgnc_id": 34449,
"hgvs_c": "n.196T>C",
"hgvs_p": null,
"transcript": "ENST00000487292.1",
"protein_id": "ENSP00000424127.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000487292.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7-PLA2G4B",
"gene_hgnc_id": 34449,
"hgvs_c": "n.1163T>C",
"hgvs_p": null,
"transcript": "ENST00000490848.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000490848.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7-PLA2G4B",
"gene_hgnc_id": 34449,
"hgvs_c": "n.989T>C",
"hgvs_p": null,
"transcript": "ENST00000491746.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000491746.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "JMJD7-PLA2G4B",
"gene_hgnc_id": 34449,
"hgvs_c": "n.504+558T>C",
"hgvs_p": null,
"transcript": "ENST00000476036.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000476036.2"
}
],
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"dbsnp": "rs759724075",
"frequency_reference_population": 6.842791e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84279e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8010068535804749,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.629,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7191,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.95,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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_001114632.2",
"gene_symbol": "JMJD7",
"hgnc_id": 34397,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.904T>C",
"hgvs_p": "p.Tyr302His"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005090.4",
"gene_symbol": "JMJD7-PLA2G4B",
"hgnc_id": 34449,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.702+558T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}