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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: 10-86716358-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86716358&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86716358,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000361373.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Gly421Gly",
"transcript": "NM_007078.3",
"protein_id": "NP_009009.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 727,
"cds_start": 1263,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "ENST00000361373.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Gly421Gly",
"transcript": "ENST00000361373.9",
"protein_id": "ENSP00000355296.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 727,
"cds_start": 1263,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "NM_007078.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1278G>A",
"hgvs_p": "p.Gly426Gly",
"transcript": "NM_001171610.2",
"protein_id": "NP_001165081.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 732,
"cds_start": 1278,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1278G>A",
"hgvs_p": "p.Gly426Gly",
"transcript": "ENST00000623056.4",
"protein_id": "ENSP00000485500.1",
"transcript_support_level": 5,
"aa_start": 426,
"aa_end": null,
"aa_length": 732,
"cds_start": 1278,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gly374Gly",
"transcript": "NM_001368066.1",
"protein_id": "NP_001354995.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 680,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gly374Gly",
"transcript": "ENST00000689740.1",
"protein_id": "ENSP00000510300.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 680,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gly374Gly",
"transcript": "ENST00000693680.1",
"protein_id": "ENSP00000509539.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 680,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Gly358Gly",
"transcript": "NM_001368064.1",
"protein_id": "NP_001354993.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 664,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Gly358Gly",
"transcript": "NM_001368065.1",
"protein_id": "NP_001354994.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 664,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Gly358Gly",
"transcript": "ENST00000688001.1",
"protein_id": "ENSP00000508987.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 664,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Gly358Gly",
"transcript": "ENST00000689296.1",
"protein_id": "ENSP00000510609.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 664,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.933G>A",
"hgvs_p": "p.Gly311Gly",
"transcript": "NM_001080114.2",
"protein_id": "NP_001073583.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 617,
"cds_start": 933,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.933G>A",
"hgvs_p": "p.Gly311Gly",
"transcript": "ENST00000429277.7",
"protein_id": "ENSP00000401437.3",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 617,
"cds_start": 933,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "n.515-2369G>A",
"hgvs_p": null,
"transcript": "ENST00000687154.1",
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"dbsnp": "rs139834701",
"frequency_reference_population": 0.00065646466,
"hom_count_reference_population": 8,
"allele_count_reference_population": 1057,
"gnomad_exomes_af": 0.000377487,
"gnomad_genomes_af": 0.00336239,
"gnomad_exomes_ac": 551,
"gnomad_genomes_ac": 506,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"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": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.081,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000361373.9",
"gene_symbol": "LDB3",
"hgnc_id": 15710,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Gly421Gly"
}
],
"clinvar_disease": "Cardiovascular phenotype,LDB3-related disorder,Myofibrillar myopathy 4,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Myofibrillar myopathy 4|not provided|Cardiovascular phenotype|LDB3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}