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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: 14-91988375-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91988375&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 91988375,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000267622.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.5169G>A",
"hgvs_p": "p.Leu1723Leu",
"transcript": "NM_004239.4",
"protein_id": "NP_004230.2",
"transcript_support_level": null,
"aa_start": 1723,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5169,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 5543,
"cdna_end": null,
"cdna_length": 9996,
"mane_select": "ENST00000267622.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.5169G>A",
"hgvs_p": "p.Leu1723Leu",
"transcript": "ENST00000267622.8",
"protein_id": "ENSP00000267622.4",
"transcript_support_level": 1,
"aa_start": 1723,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5169,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 5543,
"cdna_end": null,
"cdna_length": 9996,
"mane_select": "NM_004239.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.4314G>A",
"hgvs_p": "p.Leu1438Leu",
"transcript": "ENST00000554357.5",
"protein_id": "ENSP00000451032.1",
"transcript_support_level": 1,
"aa_start": 1438,
"aa_end": null,
"aa_length": 1694,
"cds_start": 4314,
"cds_end": null,
"cds_length": 5085,
"cdna_start": 4315,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.5166G>A",
"hgvs_p": "p.Leu1722Leu",
"transcript": "NM_001321851.1",
"protein_id": "NP_001308780.1",
"transcript_support_level": null,
"aa_start": 1722,
"aa_end": null,
"aa_length": 1978,
"cds_start": 5166,
"cds_end": null,
"cds_length": 5937,
"cdna_start": 5540,
"cdna_end": null,
"cdna_length": 9993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "c.3843G>A",
"hgvs_p": "p.Leu1281Leu",
"transcript": "XM_047431935.1",
"protein_id": "XP_047287891.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1537,
"cds_start": 3843,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 3943,
"cdna_end": null,
"cdna_length": 8396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "n.417G>A",
"hgvs_p": null,
"transcript": "ENST00000557017.1",
"protein_id": "ENSP00000451607.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "n.5379G>A",
"hgvs_p": null,
"transcript": "XR_001750598.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"hgvs_c": "n.5543G>A",
"hgvs_p": null,
"transcript": "XR_943560.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIP11",
"gene_hgnc_id": 12305,
"dbsnp": "rs2038276",
"frequency_reference_population": 0.00006694154,
"hom_count_reference_population": 0,
"allele_count_reference_population": 108,
"gnomad_exomes_af": 0.0000691228,
"gnomad_genomes_af": 0.0000459982,
"gnomad_exomes_ac": 101,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08900000154972076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.104,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000267622.8",
"gene_symbol": "TRIP11",
"hgnc_id": 12305,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5169G>A",
"hgvs_p": "p.Leu1723Leu"
}
],
"clinvar_disease": " type IA,Achondrogenesis",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Achondrogenesis, type IA",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}