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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: 1-18910367-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=18910367&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 18910367,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001136265.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO2",
"gene_hgnc_id": 27006,
"hgvs_c": "c.1423C>A",
"hgvs_p": "p.Arg475Arg",
"transcript": "NM_001136265.2",
"protein_id": "NP_001129737.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 517,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000455833.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136265.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO2",
"gene_hgnc_id": 27006,
"hgvs_c": "c.1423C>A",
"hgvs_p": "p.Arg475Arg",
"transcript": "ENST00000455833.7",
"protein_id": "ENSP00000387941.2",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 517,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136265.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455833.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO2",
"gene_hgnc_id": 27006,
"hgvs_c": "c.1486C>A",
"hgvs_p": "p.Arg496Arg",
"transcript": "ENST00000944819.1",
"protein_id": "ENSP00000614878.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 538,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944819.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO2",
"gene_hgnc_id": 27006,
"hgvs_c": "c.646C>A",
"hgvs_p": "p.Arg216Arg",
"transcript": "ENST00000416166.1",
"protein_id": "ENSP00000394655.1",
"transcript_support_level": 3,
"aa_start": 216,
"aa_end": null,
"aa_length": 258,
"cds_start": 646,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416166.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO2",
"gene_hgnc_id": 27006,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000355609.8",
"protein_id": "ENSP00000347820.4",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 88,
"cds_start": 136,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355609.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO2",
"gene_hgnc_id": 27006,
"hgvs_c": "c.1282C>A",
"hgvs_p": "p.Arg428Arg",
"transcript": "XM_011540630.3",
"protein_id": "XP_011538932.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 470,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540630.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFFO2",
"gene_hgnc_id": 27006,
"hgvs_c": "c.1186C>A",
"hgvs_p": "p.Arg396Arg",
"transcript": "XM_047444839.1",
"protein_id": "XP_047300795.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 438,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295712",
"gene_hgnc_id": null,
"hgvs_c": "n.87-67G>T",
"hgvs_p": null,
"transcript": "ENST00000732035.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000732035.1"
}
],
"gene_symbol": "IFFO2",
"gene_hgnc_id": 27006,
"dbsnp": "rs371658394",
"frequency_reference_population": 0.00011905146,
"hom_count_reference_population": 0,
"allele_count_reference_population": 192,
"gnomad_exomes_af": 0.000122549,
"gnomad_genomes_af": 0.0000854633,
"gnomad_exomes_ac": 179,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.359,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001136265.2",
"gene_symbol": "IFFO2",
"hgnc_id": 27006,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1423C>A",
"hgvs_p": "p.Arg475Arg"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000732035.1",
"gene_symbol": "ENSG00000295712",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.87-67G>T",
"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
}