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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: 11-33864748-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=33864748&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 33864748,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_005574.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Ile106Ile",
"transcript": "NM_005574.4",
"protein_id": "NP_005565.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 227,
"cds_start": 318,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257818.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005574.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Ile106Ile",
"transcript": "ENST00000257818.3",
"protein_id": "ENSP00000257818.2",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 227,
"cds_start": 318,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005574.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257818.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.111T>C",
"hgvs_p": "p.Ile37Ile",
"transcript": "ENST00000395833.7",
"protein_id": "ENSP00000379175.3",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 158,
"cds_start": 111,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395833.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "n.*55T>C",
"hgvs_p": null,
"transcript": "ENST00000411482.1",
"protein_id": "ENSP00000401967.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000411482.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "n.404T>C",
"hgvs_p": null,
"transcript": "ENST00000464025.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "n.*55T>C",
"hgvs_p": null,
"transcript": "ENST00000411482.1",
"protein_id": "ENSP00000401967.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000411482.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Ile106Ile",
"transcript": "ENST00000969327.1",
"protein_id": "ENSP00000639386.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 227,
"cds_start": 318,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969327.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.111T>C",
"hgvs_p": "p.Ile37Ile",
"transcript": "NM_001142315.2",
"protein_id": "NP_001135787.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 158,
"cds_start": 111,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142315.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.111T>C",
"hgvs_p": "p.Ile37Ile",
"transcript": "NM_001142316.2",
"protein_id": "NP_001135788.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 158,
"cds_start": 111,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142316.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Ile106Ile",
"transcript": "XM_047426944.1",
"protein_id": "XP_047282900.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 227,
"cds_start": 318,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426944.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.111T>C",
"hgvs_p": "p.Ile37Ile",
"transcript": "XM_017017733.2",
"protein_id": "XP_016873222.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 158,
"cds_start": 111,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017733.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.111T>C",
"hgvs_p": "p.Ile37Ile",
"transcript": "XM_047426945.1",
"protein_id": "XP_047282901.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 158,
"cds_start": 111,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426945.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "c.111T>C",
"hgvs_p": "p.Ile37Ile",
"transcript": "XM_047426946.1",
"protein_id": "XP_047282902.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 158,
"cds_start": 111,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"hgvs_c": "n.*16T>C",
"hgvs_p": null,
"transcript": "ENST00000465614.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465614.1"
}
],
"gene_symbol": "LMO2",
"gene_hgnc_id": 6642,
"dbsnp": "rs2038602",
"frequency_reference_population": 0.41371393,
"hom_count_reference_population": 140981,
"allele_count_reference_population": 667563,
"gnomad_exomes_af": 0.41044,
"gnomad_genomes_af": 0.445194,
"gnomad_exomes_ac": 599898,
"gnomad_genomes_ac": 67665,
"gnomad_exomes_homalt": 125296,
"gnomad_genomes_homalt": 15685,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"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": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.261,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005574.4",
"gene_symbol": "LMO2",
"hgnc_id": 6642,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Ile106Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}