← 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: 4-6029725-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6029725&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 6029725,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001099433.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Leu812Leu",
"transcript": "NM_001099433.2",
"protein_id": "NP_001092903.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 831,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": "ENST00000409021.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099433.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Leu812Leu",
"transcript": "ENST00000409021.9",
"protein_id": "ENSP00000386711.3",
"transcript_support_level": 1,
"aa_start": 812,
"aa_end": null,
"aa_length": 831,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": "NM_001099433.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409021.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1881G>A",
"hgvs_p": "p.Leu627Leu",
"transcript": "ENST00000409371.8",
"protein_id": "ENSP00000387042.3",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 646,
"cds_start": 1881,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409371.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Leu380Leu",
"transcript": "ENST00000637373.2",
"protein_id": "ENSP00000490067.1",
"transcript_support_level": 5,
"aa_start": 380,
"aa_end": null,
"aa_length": 399,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637373.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C4orf50",
"gene_hgnc_id": 33766,
"hgvs_c": "c.-2511G>A",
"hgvs_p": null,
"transcript": "ENST00000531445.3",
"protein_id": "ENSP00000437121.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1508,
"cds_start": null,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531445.3"
}
],
"gene_symbol": "JAKMIP1",
"gene_hgnc_id": 26460,
"dbsnp": "rs752154686",
"frequency_reference_population": 0.000020707677,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000207077,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12999999523162842,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.816,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001099433.2",
"gene_symbol": "JAKMIP1",
"hgnc_id": 26460,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Leu812Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000531445.3",
"gene_symbol": "C4orf50",
"hgnc_id": 33766,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-2511G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}