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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: 5-35904577-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=35904577&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 35904577,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144647.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"transcript": "NM_001042625.2",
"protein_id": "NP_001036090.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 208,
"cds_start": 595,
"cds_end": null,
"cds_length": 627,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 966,
"mane_select": "ENST00000651391.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042625.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"transcript": "ENST00000651391.1",
"protein_id": "ENSP00000498465.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 208,
"cds_start": 595,
"cds_end": null,
"cds_length": 627,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 966,
"mane_select": "NM_001042625.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651391.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"transcript": "ENST00000397367.6",
"protein_id": "ENSP00000380524.2",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 208,
"cds_start": 595,
"cds_end": null,
"cds_length": 627,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397367.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"transcript": "NM_144647.4",
"protein_id": "NP_653248.3",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 208,
"cds_start": 595,
"cds_end": null,
"cds_length": 627,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144647.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"transcript": "ENST00000397366.5",
"protein_id": "ENSP00000380523.1",
"transcript_support_level": 3,
"aa_start": 199,
"aa_end": null,
"aa_length": 208,
"cds_start": 595,
"cds_end": null,
"cds_length": 627,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397366.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"transcript": "ENST00000902317.1",
"protein_id": "ENSP00000572376.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 208,
"cds_start": 595,
"cds_end": null,
"cds_length": 627,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902317.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.646A>G",
"hgvs_p": "p.Ile216Val",
"transcript": "XM_006714444.4",
"protein_id": "XP_006714507.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 225,
"cds_start": 646,
"cds_end": null,
"cds_length": 678,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714444.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.*119A>G",
"hgvs_p": null,
"transcript": "XM_006714445.4",
"protein_id": "XP_006714508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714445.4"
},
{
"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": "CAPSL",
"gene_hgnc_id": 28375,
"hgvs_c": "c.*25A>G",
"hgvs_p": null,
"transcript": "ENST00000513623.5",
"protein_id": "ENSP00000424806.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513623.5"
}
],
"gene_symbol": "CAPSL",
"gene_hgnc_id": 28375,
"dbsnp": "rs112464695",
"frequency_reference_population": 0.000055772103,
"hom_count_reference_population": 0,
"allele_count_reference_population": 90,
"gnomad_exomes_af": 0.0000560955,
"gnomad_genomes_af": 0.00005266,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13025686144828796,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.0971,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.901,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144647.4",
"gene_symbol": "CAPSL",
"hgnc_id": 28375,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val"
}
],
"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
}