← 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: 17-82032445-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82032445&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82032445,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005052.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.94T>C",
"hgvs_p": "p.Tyr32His",
"transcript": "NM_005052.3",
"protein_id": "NP_005043.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 192,
"cds_start": 94,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306897.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005052.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.94T>C",
"hgvs_p": "p.Tyr32His",
"transcript": "ENST00000306897.9",
"protein_id": "ENSP00000304283.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 192,
"cds_start": 94,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005052.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306897.9"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "ENST00000924839.1",
"protein_id": "ENSP00000594898.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 285,
"cds_start": 373,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924839.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.94T>C",
"hgvs_p": "p.Tyr32His",
"transcript": "ENST00000924841.1",
"protein_id": "ENSP00000594900.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 200,
"cds_start": 94,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924841.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"transcript": "ENST00000924840.1",
"protein_id": "ENSP00000594899.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 185,
"cds_start": 73,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924840.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.94T>C",
"hgvs_p": "p.Tyr32His",
"transcript": "ENST00000906958.1",
"protein_id": "ENSP00000577017.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 94,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906958.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.94T>C",
"hgvs_p": "p.Tyr32His",
"transcript": "NM_001316307.2",
"protein_id": "NP_001303236.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 170,
"cds_start": 94,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316307.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.-39T>C",
"hgvs_p": null,
"transcript": "ENST00000580965.5",
"protein_id": "ENSP00000463590.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580965.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.-79T>C",
"hgvs_p": null,
"transcript": "ENST00000584341.1",
"protein_id": "ENSP00000462421.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": null,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584341.1"
},
{
"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": "RAC3",
"gene_hgnc_id": 9803,
"hgvs_c": "c.36-266T>C",
"hgvs_p": null,
"transcript": "ENST00000906959.1",
"protein_id": "ENSP00000577018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906959.1"
}
],
"gene_symbol": "RAC3",
"gene_hgnc_id": 9803,
"dbsnp": "rs2043440269",
"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": 0.9412265419960022,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.797,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9994,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.439,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005052.3",
"gene_symbol": "RAC3",
"hgnc_id": 9803,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.94T>C",
"hgvs_p": "p.Tyr32His"
}
],
"clinvar_disease": "RAC3-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "RAC3-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}