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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: 3-179416517-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179416517&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179416517,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000232564.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "NM_021629.4",
"protein_id": "NP_067642.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 340,
"cds_start": 243,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": "ENST00000232564.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "ENST00000232564.8",
"protein_id": "ENSP00000232564.3",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 340,
"cds_start": 243,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": "NM_021629.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "ENST00000466899.6",
"protein_id": "ENSP00000420066.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 242,
"cds_start": 243,
"cds_end": null,
"cds_length": 729,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "ENST00000674862.1",
"protein_id": "ENSP00000502628.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 340,
"cds_start": 243,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "ENST00000676128.1",
"protein_id": "ENSP00000501882.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 340,
"cds_start": 243,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.204T>C",
"hgvs_p": "p.Ile68Ile",
"transcript": "ENST00000468623.6",
"protein_id": "ENSP00000419693.2",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 327,
"cds_start": 204,
"cds_end": null,
"cds_length": 984,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "ENST00000675901.1",
"protein_id": "ENSP00000501992.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 322,
"cds_start": 243,
"cds_end": null,
"cds_length": 969,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "ENST00000674927.1",
"protein_id": "ENSP00000501774.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 306,
"cds_start": 243,
"cds_end": null,
"cds_length": 921,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.135T>C",
"hgvs_p": "p.Ile45Ile",
"transcript": "ENST00000674713.1",
"protein_id": "ENSP00000502144.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 304,
"cds_start": 135,
"cds_end": null,
"cds_length": 915,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "ENST00000465153.2",
"protein_id": "ENSP00000502010.1",
"transcript_support_level": 3,
"aa_start": 81,
"aa_end": null,
"aa_length": 245,
"cds_start": 243,
"cds_end": null,
"cds_length": 738,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "XM_005247692.3",
"protein_id": "XP_005247749.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 340,
"cds_start": 243,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 3927,
"cdna_end": null,
"cdna_length": 9832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "XM_006713721.3",
"protein_id": "XP_006713784.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 340,
"cds_start": 243,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "XM_047448653.1",
"protein_id": "XP_047304609.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 340,
"cds_start": 243,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile",
"transcript": "XM_047448654.1",
"protein_id": "XP_047304610.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 340,
"cds_start": 243,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.*4T>C",
"hgvs_p": null,
"transcript": "ENST00000497513.1",
"protein_id": "ENSP00000420606.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": -4,
"cds_end": null,
"cds_length": 239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"dbsnp": "rs200696108",
"frequency_reference_population": 0.00007966818,
"hom_count_reference_population": 2,
"allele_count_reference_population": 127,
"gnomad_exomes_af": 0.0000492443,
"gnomad_genomes_af": 0.000367647,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 56,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.644,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000232564.8",
"gene_symbol": "GNB4",
"hgnc_id": 20731,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.243T>C",
"hgvs_p": "p.Ile81Ile"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate F,Inborn genetic diseases",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Charcot-Marie-Tooth disease dominant intermediate F|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}