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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: 14-74611725-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74611725&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74611725,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000261978.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP2",
"gene_hgnc_id": 6715,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Glu74Gln",
"transcript": "NM_000428.3",
"protein_id": "NP_000419.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1821,
"cds_start": 220,
"cds_end": null,
"cds_length": 5466,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 8460,
"mane_select": "ENST00000261978.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP2",
"gene_hgnc_id": 6715,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Glu74Gln",
"transcript": "ENST00000261978.9",
"protein_id": "ENSP00000261978.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1821,
"cds_start": 220,
"cds_end": null,
"cds_length": 5466,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 8460,
"mane_select": "NM_000428.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP2",
"gene_hgnc_id": 6715,
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Glu74Gln",
"transcript": "ENST00000556690.5",
"protein_id": "ENSP00000451477.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 1777,
"cds_start": 220,
"cds_end": null,
"cds_length": 5334,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP2",
"gene_hgnc_id": 6715,
"hgvs_c": "n.220G>C",
"hgvs_p": null,
"transcript": "ENST00000553939.5",
"protein_id": "ENSP00000452110.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LTBP2",
"gene_hgnc_id": 6715,
"hgvs_c": "n.123+321G>C",
"hgvs_p": null,
"transcript": "ENST00000557425.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LTBP2",
"gene_hgnc_id": 6715,
"dbsnp": "rs79886273",
"frequency_reference_population": 0.00048134205,
"hom_count_reference_population": 0,
"allele_count_reference_population": 770,
"gnomad_exomes_af": 0.000496764,
"gnomad_genomes_af": 0.000334804,
"gnomad_exomes_ac": 719,
"gnomad_genomes_ac": 51,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10487711429595947,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.1142,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.437,
"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": -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": "ENST00000261978.9",
"gene_symbol": "LTBP2",
"hgnc_id": 6715,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.220G>C",
"hgvs_p": "p.Glu74Gln"
}
],
"clinvar_disease": " D, primary congenital, with ectopia lentis and with or without secondary glaucoma,Glaucoma 3,Inborn genetic diseases,Microspherophakia and/or megalocornea,Weill-Marchesani syndrome,Weill-Marchesani syndrome 3,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Weill-Marchesani syndrome 3|Weill-Marchesani syndrome|Glaucoma 3, primary congenital, D|not provided|Inborn genetic diseases|Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}