← 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: 1-32864684-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32864684&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32864684,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001441683.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Arg",
"transcript": "NM_153756.3",
"protein_id": "NP_715637.2",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 212,
"cds_start": 613,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373471.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153756.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Arg",
"transcript": "ENST00000373471.9",
"protein_id": "ENSP00000362570.5",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 212,
"cds_start": 613,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153756.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373471.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Gly130Arg",
"transcript": "ENST00000496770.1",
"protein_id": "ENSP00000476320.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 153,
"cds_start": 388,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496770.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "n.34G>A",
"hgvs_p": null,
"transcript": "ENST00000481487.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481487.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "NM_001441683.1",
"protein_id": "NP_001428612.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 260,
"cds_start": 757,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441683.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "ENST00000710568.1",
"protein_id": "ENSP00000518350.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 260,
"cds_start": 757,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710568.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Arg",
"transcript": "NM_001436107.1",
"protein_id": "NP_001423036.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 223,
"cds_start": 613,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436107.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Gly194Arg",
"transcript": "ENST00000649537.2",
"protein_id": "ENSP00000497837.2",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 201,
"cds_start": 580,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649537.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Gly130Arg",
"transcript": "NM_001171941.3",
"protein_id": "NP_001165412.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 153,
"cds_start": 388,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171941.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "c.531+82G>A",
"hgvs_p": null,
"transcript": "NM_001171940.2",
"protein_id": "NP_001165411.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171940.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"hgvs_c": "n.36G>A",
"hgvs_p": null,
"transcript": "ENST00000497068.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497068.1"
}
],
"gene_symbol": "FNDC5",
"gene_hgnc_id": 20240,
"dbsnp": "rs377098383",
"frequency_reference_population": 0.000032217213,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000300997,
"gnomad_genomes_af": 0.00005255,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6742558479309082,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.402,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6453,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.446,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001441683.1",
"gene_symbol": "FNDC5",
"hgnc_id": 20240,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg"
}
],
"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
}