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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: 11-65552397-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65552397&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LTBP3",
"hgnc_id": 6716,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001130144.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000302197",
"hgnc_id": null,
"hgvs_c": "n.127+307G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000784896.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.0867,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Brachyolmia-amelogenesis imperfecta syndrome,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7403938174247742,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 3912,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001130144.3",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301873.11",
"protein_coding": true,
"protein_id": "NP_001123616.1",
"strand": false,
"transcript": "NM_001130144.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 3912,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000301873.11",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130144.3",
"protein_coding": true,
"protein_id": "ENSP00000301873.5",
"strand": false,
"transcript": "ENST00000301873.11",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4046,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 3771,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000322147.8",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326647.4",
"strand": false,
"transcript": "ENST00000322147.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3935,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000528516.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*841C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432350.1",
"strand": false,
"transcript": "ENST00000528516.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3935,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000528516.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*841C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432350.1",
"strand": false,
"transcript": "ENST00000528516.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "P",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4540,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 3939,
"cds_start": 1223,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971648.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Pro408Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641707.1",
"strand": false,
"transcript": "ENST00000971648.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "P",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 3909,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971647.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Pro398Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641706.1",
"strand": false,
"transcript": "ENST00000971647.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 1437,
"cds_end": null,
"cds_length": 3822,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971650.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641709.1",
"strand": false,
"transcript": "ENST00000971650.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "P",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 3789,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000689505.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510401.1",
"strand": false,
"transcript": "ENST00000689505.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 3789,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971646.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641705.1",
"strand": false,
"transcript": "ENST00000971646.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 3789,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971649.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641708.1",
"strand": false,
"transcript": "ENST00000971649.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 3771,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_021070.4",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Pro399Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066548.2",
"strand": false,
"transcript": "NM_021070.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 3645,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000530866.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Pro310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435276.2",
"strand": false,
"transcript": "ENST00000530866.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "P",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 3420,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001164266.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.845C>T",
"hgvs_p": "p.Pro282Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157738.1",
"strand": false,
"transcript": "NM_001164266.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "P",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 741,
"cds_end": null,
"cds_length": 2916,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000526927.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431219.2",
"strand": false,
"transcript": "ENST00000526927.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 849,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000524798.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.666C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000524798.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000526825.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*459C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435146.2",
"strand": false,
"transcript": "ENST00000526825.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000527792.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.128C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000527792.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000526825.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*459C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435146.2",
"strand": false,
"transcript": "ENST00000526825.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000784896.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000302197",
"hgvs_c": "n.127+307G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000784896.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs764981765",
"effect": "missense_variant",
"frequency_reference_population": 0.000019847299,
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"gnomad_exomes_ac": 29,
"gnomad_exomes_af": 0.0000198473,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Brachyolmia-amelogenesis imperfecta syndrome|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.291,
"pos": 65552397,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.546,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001130144.3"
}
]
}