← Back to variant description
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: 8-74321007-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=74321007&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 74321007,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020647.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "JPH1",
"gene_hgnc_id": 14201,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Tyr94Cys",
"transcript": "NM_020647.4",
"protein_id": "NP_065698.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 661,
"cds_start": 281,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": "ENST00000342232.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"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": "JPH1",
"gene_hgnc_id": 14201,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Tyr94Cys",
"transcript": "ENST00000342232.5",
"protein_id": "ENSP00000344488.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 661,
"cds_start": 281,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": "NM_020647.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "JPH1",
"gene_hgnc_id": 14201,
"hgvs_c": "n.14+267A>G",
"hgvs_p": null,
"transcript": "ENST00000519947.1",
"protein_id": "ENSP00000429652.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "JPH1",
"gene_hgnc_id": 14201,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Tyr94Cys",
"transcript": "NM_001317830.2",
"protein_id": "NP_001304759.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 661,
"cds_start": 281,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "JPH1",
"gene_hgnc_id": 14201,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Tyr94Cys",
"transcript": "NM_001363050.1",
"protein_id": "NP_001349979.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 661,
"cds_start": 281,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "JPH1",
"gene_hgnc_id": 14201,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Tyr94Cys",
"transcript": "NM_001363051.1",
"protein_id": "NP_001349980.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 661,
"cds_start": 281,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH1",
"gene_hgnc_id": 14201,
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Tyr94Cys",
"transcript": "XM_047421996.1",
"protein_id": "XP_047277952.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 661,
"cds_start": 281,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.-18+46T>C",
"hgvs_p": null,
"transcript": "ENST00000675821.1",
"protein_id": "ENSP00000502198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.-18+89T>C",
"hgvs_p": null,
"transcript": "ENST00000676377.1",
"protein_id": "ENSP00000502756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "n.340+46T>C",
"hgvs_p": null,
"transcript": "ENST00000521096.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.-256T>C",
"hgvs_p": null,
"transcript": "ENST00000675220.1",
"protein_id": "ENSP00000502588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JPH1",
"gene_hgnc_id": 14201,
"dbsnp": "rs1201225041",
"frequency_reference_population": 6.8462015e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8462e-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": 0.90537428855896,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.518,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9669,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.907,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020647.4",
"gene_symbol": "JPH1",
"hgnc_id": 14201,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.281A>G",
"hgvs_p": "p.Tyr94Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000521096.6",
"gene_symbol": "GDAP1",
"hgnc_id": 15968,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "n.340+46T>C",
"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
}