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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: 15-41836816-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41836816&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41836816,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001114632.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Asp246Glu",
"transcript": "NM_001114632.2",
"protein_id": "NP_001108104.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 316,
"cds_start": 738,
"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": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Asp246Glu",
"transcript": "ENST00000397299.9",
"protein_id": "ENSP00000380467.4",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 316,
"cds_start": 738,
"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+265C>G",
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Asp246Glu",
"transcript": "ENST00000922178.1",
"protein_id": "ENSP00000592237.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 330,
"cds_start": 738,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.744C>G",
"hgvs_p": "p.Asp248Glu",
"transcript": "ENST00000864345.1",
"protein_id": "ENSP00000534404.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 318,
"cds_start": 744,
"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": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "c.441C>G",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000408047.5",
"protein_id": "ENSP00000384174.1",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 217,
"cds_start": 441,
"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+265C>G",
"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+265C>G",
"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+265C>G",
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD7",
"gene_hgnc_id": 34397,
"hgvs_c": "n.307C>G",
"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": 1,
"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.30C>G",
"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": 6,
"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.997C>G",
"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": 6,
"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.823C>G",
"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+265C>G",
"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": "rs771388995",
"frequency_reference_population": 0.000027291899,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.000027397,
"gnomad_genomes_af": 0.000026284,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15646010637283325,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.3876,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.194,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001114632.2",
"gene_symbol": "JMJD7",
"hgnc_id": 34397,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Asp246Glu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005090.4",
"gene_symbol": "JMJD7-PLA2G4B",
"hgnc_id": 34449,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.702+265C>G",
"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
}