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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: 10-26511892-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26511892&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 26511892,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019043.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu",
"transcript": "NM_019043.4",
"protein_id": "NP_061916.3",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 666,
"cds_start": 677,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376236.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019043.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu",
"transcript": "ENST00000376236.9",
"protein_id": "ENSP00000365411.4",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 666,
"cds_start": 677,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019043.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376236.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu",
"transcript": "ENST00000718302.1",
"protein_id": "ENSP00000520735.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 666,
"cds_start": 677,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718302.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu",
"transcript": "ENST00000872270.1",
"protein_id": "ENSP00000542329.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 666,
"cds_start": 677,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872270.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Pro200Leu",
"transcript": "ENST00000872269.1",
"protein_id": "ENSP00000542328.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 640,
"cds_start": 599,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872269.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu",
"transcript": "ENST00000872267.1",
"protein_id": "ENSP00000542326.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 633,
"cds_start": 677,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872267.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu",
"transcript": "ENST00000872268.1",
"protein_id": "ENSP00000542327.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 589,
"cds_start": 677,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872268.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu",
"transcript": "XM_011519514.3",
"protein_id": "XP_011517816.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 618,
"cds_start": 677,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519514.3"
}
],
"gene_symbol": "APBB1IP",
"gene_hgnc_id": 17379,
"dbsnp": "rs780615541",
"frequency_reference_population": 0.000009913173,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102609,
"gnomad_genomes_af": 0.00000657203,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8172276616096497,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.617,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1734,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.474,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019043.4",
"gene_symbol": "APBB1IP",
"hgnc_id": 17379,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Pro226Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}