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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: 3-108162558-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=108162558&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 108162558,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018010.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1209A>C",
"hgvs_p": "p.Gln403His",
"transcript": "NM_018010.4",
"protein_id": "NP_060480.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 429,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264538.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018010.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1209A>C",
"hgvs_p": "p.Gln403His",
"transcript": "ENST00000264538.4",
"protein_id": "ENSP00000264538.3",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 429,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018010.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264538.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1320A>C",
"hgvs_p": "p.Gln440His",
"transcript": "ENST00000878338.1",
"protein_id": "ENSP00000548397.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 466,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878338.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1302A>C",
"hgvs_p": "p.Gln434His",
"transcript": "ENST00000939116.1",
"protein_id": "ENSP00000609175.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 460,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939116.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1215A>C",
"hgvs_p": "p.Gln405His",
"transcript": "ENST00000939115.1",
"protein_id": "ENSP00000609174.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 431,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939115.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1206A>C",
"hgvs_p": "p.Gln402His",
"transcript": "ENST00000939114.1",
"protein_id": "ENSP00000609173.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 428,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939114.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1203A>C",
"hgvs_p": "p.Gln401His",
"transcript": "ENST00000947214.1",
"protein_id": "ENSP00000617273.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 427,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947214.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1140A>C",
"hgvs_p": "p.Gln380His",
"transcript": "ENST00000939117.1",
"protein_id": "ENSP00000609176.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 406,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939117.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1077A>C",
"hgvs_p": "p.Gln359His",
"transcript": "ENST00000939118.1",
"protein_id": "ENSP00000609177.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 385,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939118.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"hgvs_c": "c.1014A>C",
"hgvs_p": "p.Gln338His",
"transcript": "ENST00000939119.1",
"protein_id": "ENSP00000609178.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 364,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939119.1"
}
],
"gene_symbol": "IFT57",
"gene_hgnc_id": 17367,
"dbsnp": "rs371511443",
"frequency_reference_population": 0.000020540518,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000205405,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5572883486747742,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.3421,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.223,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018010.4",
"gene_symbol": "IFT57",
"hgnc_id": 17367,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1209A>C",
"hgvs_p": "p.Gln403His"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}