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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: 3-108162570-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=108162570&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 108162570,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_018010.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1197C>T",
"hgvs_p": "p.His399His",
"transcript": "NM_018010.4",
"protein_id": "NP_060480.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 429,
"cds_start": 1197,
"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": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1197C>T",
"hgvs_p": "p.His399His",
"transcript": "ENST00000264538.4",
"protein_id": "ENSP00000264538.3",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 429,
"cds_start": 1197,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1308C>T",
"hgvs_p": "p.His436His",
"transcript": "ENST00000878338.1",
"protein_id": "ENSP00000548397.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 466,
"cds_start": 1308,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1290C>T",
"hgvs_p": "p.His430His",
"transcript": "ENST00000939116.1",
"protein_id": "ENSP00000609175.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 460,
"cds_start": 1290,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1203C>T",
"hgvs_p": "p.His401His",
"transcript": "ENST00000939115.1",
"protein_id": "ENSP00000609174.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 431,
"cds_start": 1203,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1194C>T",
"hgvs_p": "p.His398His",
"transcript": "ENST00000939114.1",
"protein_id": "ENSP00000609173.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 428,
"cds_start": 1194,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1191C>T",
"hgvs_p": "p.His397His",
"transcript": "ENST00000947214.1",
"protein_id": "ENSP00000617273.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 427,
"cds_start": 1191,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1128C>T",
"hgvs_p": "p.His376His",
"transcript": "ENST00000939117.1",
"protein_id": "ENSP00000609176.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 406,
"cds_start": 1128,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1065C>T",
"hgvs_p": "p.His355His",
"transcript": "ENST00000939118.1",
"protein_id": "ENSP00000609177.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 385,
"cds_start": 1065,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1002C>T",
"hgvs_p": "p.His334His",
"transcript": "ENST00000939119.1",
"protein_id": "ENSP00000609178.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 364,
"cds_start": 1002,
"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": "rs1435923554",
"frequency_reference_population": 0.0000049596656,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 6.84538e-7,
"gnomad_genomes_af": 0.0000460006,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.857,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018010.4",
"gene_symbol": "IFT57",
"hgnc_id": 17367,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1197C>T",
"hgvs_p": "p.His399His"
}
],
"clinvar_disease": "IFT57-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided|IFT57-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}