← 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: 8-107251892-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=107251892&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 107251892,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001146.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"transcript": "NM_001146.5",
"protein_id": "NP_001137.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 498,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": "ENST00000517746.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"transcript": "ENST00000517746.6",
"protein_id": "ENSP00000428340.1",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 498,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": "NM_001146.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"hgvs_c": "c.1457G>C",
"hgvs_p": "p.Arg486Pro",
"transcript": "ENST00000297450.7",
"protein_id": "ENSP00000297450.3",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 497,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"hgvs_c": "c.1457G>C",
"hgvs_p": "p.Arg486Pro",
"transcript": "NM_001199859.3",
"protein_id": "NP_001186788.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 497,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Arg287Pro",
"transcript": "NM_001314051.2",
"protein_id": "NP_001300980.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 298,
"cds_start": 860,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Arg287Pro",
"transcript": "ENST00000520734.5",
"protein_id": "ENSP00000430750.1",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 298,
"cds_start": 860,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"hgvs_c": "c.857G>C",
"hgvs_p": "p.Arg286Pro",
"transcript": "ENST00000520052.1",
"protein_id": "ENSP00000429349.1",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 297,
"cds_start": 857,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1523,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"hgvs_c": "n.448G>C",
"hgvs_p": null,
"transcript": "ENST00000518386.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANGPT1",
"gene_hgnc_id": 484,
"dbsnp": "rs774208271",
"frequency_reference_population": 0.000001368296,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013683,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4208631217479706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.8291,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.693,
"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": 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_001146.5",
"gene_symbol": "ANGPT1",
"hgnc_id": 484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}