← 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: 8-37751664-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=37751664&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 37751664,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000519638.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg",
"transcript": "NM_007175.8",
"protein_id": "NP_009106.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 339,
"cds_start": 688,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "ENST00000519638.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg",
"transcript": "ENST00000519638.3",
"protein_id": "ENSP00000428112.1",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 339,
"cds_start": 688,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "NM_007175.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg",
"transcript": "NM_001362878.2",
"protein_id": "NP_001349807.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 339,
"cds_start": 688,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg",
"transcript": "ENST00000521644.5",
"protein_id": "ENSP00000429621.1",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 337,
"cds_start": 688,
"cds_end": null,
"cds_length": 1016,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Arg",
"transcript": "ENST00000518526.5",
"protein_id": "ENSP00000429229.1",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 196,
"cds_start": 559,
"cds_end": null,
"cds_length": 592,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg",
"transcript": "XM_047421307.1",
"protein_id": "XP_047277263.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 339,
"cds_start": 688,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Gly148Arg",
"transcript": "XM_047421308.1",
"protein_id": "XP_047277264.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 257,
"cds_start": 442,
"cds_end": null,
"cds_length": 774,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERLIN2",
"gene_hgnc_id": 1356,
"dbsnp": "rs752925074",
"frequency_reference_population": 0.000009914512,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102628,
"gnomad_genomes_af": 0.00000657004,
"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": 0.2110416293144226,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.172,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.116,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000519638.3",
"gene_symbol": "ERLIN2",
"hgnc_id": 1356,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg"
}
],
"clinvar_disease": "Spastic paraplegia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}