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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: 15-80929151-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=80929151&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 80929151,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394685.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2589C>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "NM_001293298.2",
"protein_id": "NP_001280227.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1361,
"cds_start": 2589,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 7353,
"mane_select": "ENST00000394685.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2589C>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "ENST00000394685.8",
"protein_id": "ENSP00000378177.3",
"transcript_support_level": 1,
"aa_start": 863,
"aa_end": null,
"aa_length": 1361,
"cds_start": 2589,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 7353,
"mane_select": "NM_001293298.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2589C>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "ENST00000220244.7",
"protein_id": "ENSP00000220244.3",
"transcript_support_level": 1,
"aa_start": 863,
"aa_end": null,
"aa_length": 1361,
"cds_start": 2589,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 2877,
"cdna_end": null,
"cdna_length": 7226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2589C>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "ENST00000356249.9",
"protein_id": "ENSP00000348583.5",
"transcript_support_level": 1,
"aa_start": 863,
"aa_end": null,
"aa_length": 1361,
"cds_start": 2589,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2589C>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "NM_001293304.2",
"protein_id": "NP_001280233.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1361,
"cds_start": 2589,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 7293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2589C>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "NM_018689.3",
"protein_id": "NP_061159.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1361,
"cds_start": 2589,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2694C>G",
"hgvs_p": "p.Ser898Arg",
"transcript": "XM_047432893.1",
"protein_id": "XP_047288849.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2694,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 7643,
"cdna_end": null,
"cdna_length": 11987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2694C>G",
"hgvs_p": "p.Ser898Arg",
"transcript": "XM_047432894.1",
"protein_id": "XP_047288850.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2694,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 8986,
"cdna_end": null,
"cdna_length": 13330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2694C>G",
"hgvs_p": "p.Ser898Arg",
"transcript": "XM_047432896.1",
"protein_id": "XP_047288852.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2694,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 7548,
"cdna_end": null,
"cdna_length": 11892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2694C>G",
"hgvs_p": "p.Ser898Arg",
"transcript": "XM_047432897.1",
"protein_id": "XP_047288853.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2694,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 8891,
"cdna_end": null,
"cdna_length": 13235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2694C>G",
"hgvs_p": "p.Ser898Arg",
"transcript": "XM_047432898.1",
"protein_id": "XP_047288854.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2694,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 8166,
"cdna_end": null,
"cdna_length": 12510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2694C>G",
"hgvs_p": "p.Ser898Arg",
"transcript": "XM_047432899.1",
"protein_id": "XP_047288855.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2694,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"hgvs_c": "c.2589C>G",
"hgvs_p": "p.Ser863Arg",
"transcript": "XM_047432900.1",
"protein_id": "XP_047288856.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1361,
"cds_start": 2589,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 7416,
"cdna_end": null,
"cdna_length": 11760,
"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": "ENSG00000259546",
"gene_hgnc_id": null,
"hgvs_c": "n.173-19399G>C",
"hgvs_p": null,
"transcript": "ENST00000560873.1",
"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": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEMIP",
"gene_hgnc_id": 29213,
"dbsnp": "rs35092028",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03971952199935913,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1533,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.913,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000394685.8",
"gene_symbol": "CEMIP",
"hgnc_id": 29213,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2589C>G",
"hgvs_p": "p.Ser863Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000560873.1",
"gene_symbol": "ENSG00000259546",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.173-19399G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}