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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: 14-69778440-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=69778440&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 69778440,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003049.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Ile279Thr",
"transcript": "NM_003049.4",
"protein_id": "NP_003040.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 349,
"cds_start": 836,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216540.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003049.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Ile279Thr",
"transcript": "ENST00000216540.5",
"protein_id": "ENSP00000216540.4",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 349,
"cds_start": 836,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003049.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216540.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Ile296Thr",
"transcript": "ENST00000871518.1",
"protein_id": "ENSP00000541577.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 366,
"cds_start": 887,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871518.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.872T>C",
"hgvs_p": "p.Ile291Thr",
"transcript": "ENST00000871519.1",
"protein_id": "ENSP00000541578.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 361,
"cds_start": 872,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871519.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.830T>C",
"hgvs_p": "p.Ile277Thr",
"transcript": "ENST00000871517.1",
"protein_id": "ENSP00000541576.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 347,
"cds_start": 830,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871517.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Ile255Thr",
"transcript": "ENST00000871515.1",
"protein_id": "ENSP00000541574.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 764,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871515.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Ile149Thr",
"transcript": "ENST00000871514.1",
"protein_id": "ENSP00000541573.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 219,
"cds_start": 446,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871514.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.568-44T>C",
"hgvs_p": null,
"transcript": "ENST00000871516.1",
"protein_id": "ENSP00000541575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871516.1"
}
],
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"dbsnp": "rs72547507",
"frequency_reference_population": 0.00013877547,
"hom_count_reference_population": 0,
"allele_count_reference_population": 224,
"gnomad_exomes_af": 0.000123135,
"gnomad_genomes_af": 0.000288888,
"gnomad_exomes_ac": 180,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21243441104888916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.1479,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.193,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_003049.4",
"gene_symbol": "SLC10A1",
"hgnc_id": 10905,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Ile279Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}