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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: 14-91972715-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91972715&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1"
],
"effects": [
"splice_donor_variant",
"intron_variant"
],
"gene_symbol": "TRIP11",
"hgnc_id": 12305,
"hgvs_c": "c.5719+2T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_004239.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_score": 8,
"allele_count_reference_population": 377,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " type IA,Achondrogenesis,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.3499999940395355,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1979,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9996,
"cdna_start": null,
"cds_end": null,
"cds_length": 5940,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004239.4",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.5719+2T>C",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267622.8",
"protein_coding": true,
"protein_id": "NP_004230.2",
"strand": false,
"transcript": "NM_004239.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1979,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9996,
"cdna_start": null,
"cds_end": null,
"cds_length": 5940,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000267622.8",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.5719+2T>C",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004239.4",
"protein_coding": true,
"protein_id": "ENSP00000267622.4",
"strand": false,
"transcript": "ENST00000267622.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1694,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5246,
"cdna_start": null,
"cds_end": null,
"cds_length": 5085,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554357.5",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.4864+2T>C",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451032.1",
"strand": false,
"transcript": "ENST00000554357.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1978,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9993,
"cdna_start": null,
"cds_end": null,
"cds_length": 5937,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321851.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.5716+2T>C",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308780.1",
"strand": false,
"transcript": "NM_001321851.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1978,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10003,
"cdna_start": null,
"cds_end": null,
"cds_length": 5937,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913145.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.5716+2T>C",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583204.1",
"strand": false,
"transcript": "ENST00000913145.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1956,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6392,
"cdna_start": null,
"cds_end": null,
"cds_length": 5871,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913147.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.5650+2T>C",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583206.1",
"strand": false,
"transcript": "ENST00000913147.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1887,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6199,
"cdna_start": null,
"cds_end": null,
"cds_length": 5664,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913146.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.5443+2T>C",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583205.1",
"strand": false,
"transcript": "ENST00000913146.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1059,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": null,
"cds_end": null,
"cds_length": 3180,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913148.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.2959+2T>C",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583207.1",
"strand": false,
"transcript": "ENST00000913148.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4624,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876362.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.2689+2T>C",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546421.1",
"strand": false,
"transcript": "ENST00000876362.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 898,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": null,
"cds_end": null,
"cds_length": 2697,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964015.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.2476+2T>C",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634074.1",
"strand": false,
"transcript": "ENST00000964015.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 877,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": null,
"cds_end": null,
"cds_length": 2634,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876363.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.2413+2T>C",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546422.1",
"strand": false,
"transcript": "ENST00000876363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 869,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": null,
"cds_end": null,
"cds_length": 2610,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964014.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.2389+2T>C",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634073.1",
"strand": false,
"transcript": "ENST00000964014.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8396,
"cdna_start": null,
"cds_end": null,
"cds_length": 4614,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431935.1",
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"hgvs_c": "c.4393+2T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287891.1",
"strand": false,
"transcript": "XM_047431935.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.992577803696025,
"dbsnp": "rs199736345",
"effect": "splice_donor_variant,intron_variant",
"frequency_reference_population": 0.00023452916,
"gene_hgnc_id": 12305,
"gene_symbol": "TRIP11",
"gnomad_exomes_ac": 357,
"gnomad_exomes_af": 0.000245313,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 20,
"gnomad_genomes_af": 0.000131415,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Achondrogenesis, type IA|not specified|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.77,
"pos": 91972715,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.7020000219345093,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.89,
"transcript": "NM_004239.4"
}
]
}