← 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: 5-168669872-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=168669872&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 168669872,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001271946.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT3",
"gene_hgnc_id": 11087,
"hgvs_c": "c.4247A>C",
"hgvs_p": "p.Lys1416Thr",
"transcript": "NM_003062.4",
"protein_id": "NP_003053.2",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4247,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000519560.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003062.4"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT3",
"gene_hgnc_id": 11087,
"hgvs_c": "c.4247A>C",
"hgvs_p": "p.Lys1416Thr",
"transcript": "ENST00000519560.6",
"protein_id": "ENSP00000430333.2",
"transcript_support_level": 1,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4247,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003062.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519560.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT3",
"gene_hgnc_id": 11087,
"hgvs_c": "c.4268A>C",
"hgvs_p": "p.Lys1423Thr",
"transcript": "ENST00000332966.8",
"protein_id": "ENSP00000332164.8",
"transcript_support_level": 1,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4268,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332966.8"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT3",
"gene_hgnc_id": 11087,
"hgvs_c": "c.4268A>C",
"hgvs_p": "p.Lys1423Thr",
"transcript": "NM_001271946.2",
"protein_id": "NP_001258875.2",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4268,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271946.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT3",
"gene_hgnc_id": 11087,
"hgvs_c": "c.4058A>C",
"hgvs_p": "p.Lys1353Thr",
"transcript": "XM_017009779.1",
"protein_id": "XP_016865268.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009779.1"
}
],
"gene_symbol": "SLIT3",
"gene_hgnc_id": 11087,
"dbsnp": "rs775669982",
"frequency_reference_population": 0.0000065701297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36017197370529175,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.36,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0959,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.111,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001271946.2",
"gene_symbol": "SLIT3",
"hgnc_id": 11087,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4268A>C",
"hgvs_p": "p.Lys1423Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}