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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: 1-18910357-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=18910357&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 18910357,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001136265.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1433A>G",
"hgvs_p": "p.Lys478Arg",
"transcript": "NM_001136265.2",
"protein_id": "NP_001129737.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 517,
"cds_start": 1433,
"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": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1433A>G",
"hgvs_p": "p.Lys478Arg",
"transcript": "ENST00000455833.7",
"protein_id": "ENSP00000387941.2",
"transcript_support_level": 5,
"aa_start": 478,
"aa_end": null,
"aa_length": 517,
"cds_start": 1433,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1496A>G",
"hgvs_p": "p.Lys499Arg",
"transcript": "ENST00000944819.1",
"protein_id": "ENSP00000614878.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1496,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.656A>G",
"hgvs_p": "p.Lys219Arg",
"transcript": "ENST00000416166.1",
"protein_id": "ENSP00000394655.1",
"transcript_support_level": 3,
"aa_start": 219,
"aa_end": null,
"aa_length": 258,
"cds_start": 656,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.146A>G",
"hgvs_p": "p.Lys49Arg",
"transcript": "ENST00000355609.8",
"protein_id": "ENSP00000347820.4",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 88,
"cds_start": 146,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1292A>G",
"hgvs_p": "p.Lys431Arg",
"transcript": "XM_011540630.3",
"protein_id": "XP_011538932.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 470,
"cds_start": 1292,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1196A>G",
"hgvs_p": "p.Lys399Arg",
"transcript": "XM_047444839.1",
"protein_id": "XP_047300795.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 438,
"cds_start": 1196,
"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.87-77T>C",
"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": "rs1402244260",
"frequency_reference_population": 6.8518585e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85186e-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": 0.2927109897136688,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1057,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.539,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001136265.2",
"gene_symbol": "IFFO2",
"hgnc_id": 27006,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Lys478Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000732035.1",
"gene_symbol": "ENSG00000295712",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.87-77T>C",
"hgvs_p": null
}
],
"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
}