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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: 11-65546547-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65546547&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65546547,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000301873.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "c.2248G>T",
"hgvs_p": "p.Glu750*",
"transcript": "NM_001130144.3",
"protein_id": "NP_001123616.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2248,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": "ENST00000301873.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "c.2248G>T",
"hgvs_p": "p.Glu750*",
"transcript": "ENST00000301873.11",
"protein_id": "ENSP00000301873.5",
"transcript_support_level": 2,
"aa_start": 750,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2248,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": "NM_001130144.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "c.2248G>T",
"hgvs_p": "p.Glu750*",
"transcript": "ENST00000322147.8",
"protein_id": "ENSP00000326647.4",
"transcript_support_level": 1,
"aa_start": 750,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2248,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 4046,
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.*1893G>T",
"hgvs_p": null,
"transcript": "ENST00000528516.5",
"protein_id": "ENSP00000432350.1",
"transcript_support_level": 1,
"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": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.*1893G>T",
"hgvs_p": null,
"transcript": "ENST00000528516.5",
"protein_id": "ENSP00000432350.1",
"transcript_support_level": 1,
"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": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "c.2125G>T",
"hgvs_p": "p.Glu709*",
"transcript": "ENST00000689505.1",
"protein_id": "ENSP00000510401.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 1262,
"cds_start": 2125,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "c.2248G>T",
"hgvs_p": "p.Glu750*",
"transcript": "NM_021070.4",
"protein_id": "NP_066548.2",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2248,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "c.1981G>T",
"hgvs_p": "p.Glu661*",
"transcript": "ENST00000530866.6",
"protein_id": "ENSP00000435276.2",
"transcript_support_level": 2,
"aa_start": 661,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1981,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "c.1897G>T",
"hgvs_p": "p.Glu633*",
"transcript": "NM_001164266.1",
"protein_id": "NP_001157738.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1897,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "c.1393G>T",
"hgvs_p": "p.Glu465*",
"transcript": "ENST00000526927.6",
"protein_id": "ENSP00000431219.2",
"transcript_support_level": 2,
"aa_start": 465,
"aa_end": null,
"aa_length": 971,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 3344,
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.*1511G>T",
"hgvs_p": null,
"transcript": "ENST00000526825.6",
"protein_id": "ENSP00000435146.2",
"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": 4498,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.268G>T",
"hgvs_p": null,
"transcript": "ENST00000527339.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 619,
"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": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.213G>T",
"hgvs_p": null,
"transcript": "ENST00000529189.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1997,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.1402G>T",
"hgvs_p": null,
"transcript": "ENST00000532932.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3327,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.1920G>T",
"hgvs_p": null,
"transcript": "ENST00000685178.1",
"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": 3620,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.771G>T",
"hgvs_p": null,
"transcript": "ENST00000688764.1",
"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": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"hgvs_c": "n.*1511G>T",
"hgvs_p": null,
"transcript": "ENST00000526825.6",
"protein_id": "ENSP00000435146.2",
"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": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LTBP3",
"gene_hgnc_id": 6716,
"dbsnp": "rs1554973844",
"frequency_reference_population": 6.896799e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8968e-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": 0.11100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.25999999046325684,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.332,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.26,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000301873.11",
"gene_symbol": "LTBP3",
"hgnc_id": 6716,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2248G>T",
"hgvs_p": "p.Glu750*"
}
],
"clinvar_disease": "Brachyolmia-amelogenesis imperfecta syndrome,Heritable Thoracic Aortic Disease",
"clinvar_classification": " confers sensitivity,Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Brachyolmia-amelogenesis imperfecta syndrome|Heritable Thoracic Aortic Disease",
"pathogenicity_classification_combined": "Pathogenic; confers sensitivity",
"custom_annotations": null
}
],
"message": null
}