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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: 1-32868223-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32868223&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32868223,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001441683.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"transcript": "NM_153756.3",
"protein_id": "NP_715637.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 212,
"cds_start": 376,
"cds_end": null,
"cds_length": 639,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": "ENST00000373471.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153756.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"transcript": "ENST00000373471.9",
"protein_id": "ENSP00000362570.5",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 212,
"cds_start": 376,
"cds_end": null,
"cds_length": 639,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": "NM_153756.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373471.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Arg51Ser",
"transcript": "ENST00000496770.1",
"protein_id": "ENSP00000476320.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 153,
"cds_start": 151,
"cds_end": null,
"cds_length": 462,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496770.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Arg174Ser",
"transcript": "NM_001441683.1",
"protein_id": "NP_001428612.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 260,
"cds_start": 520,
"cds_end": null,
"cds_length": 783,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441683.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Arg174Ser",
"transcript": "ENST00000710568.1",
"protein_id": "ENSP00000518350.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 260,
"cds_start": 520,
"cds_end": null,
"cds_length": 783,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710568.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"transcript": "NM_001436107.1",
"protein_id": "NP_001423036.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 223,
"cds_start": 376,
"cds_end": null,
"cds_length": 672,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436107.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Arg115Ser",
"transcript": "ENST00000649537.2",
"protein_id": "ENSP00000497837.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 201,
"cds_start": 343,
"cds_end": null,
"cds_length": 606,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649537.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"transcript": "NM_001171940.2",
"protein_id": "NP_001165411.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 181,
"cds_start": 376,
"cds_end": null,
"cds_length": 546,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171940.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Arg51Ser",
"transcript": "NM_001171941.3",
"protein_id": "NP_001165412.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 153,
"cds_start": 151,
"cds_end": null,
"cds_length": 462,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171941.3"
}
],
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"dbsnp": "rs780955257",
"frequency_reference_population": 0.000034696364,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000369394,
"gnomad_genomes_af": 0.0000131451,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18324992060661316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5537,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.586,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001441683.1",
"gene_symbol": "FNDC5",
"hgnc_id": 20240,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Arg174Ser"
}
],
"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
}