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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: 21-46194529-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46194529&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46194529,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000397728.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.His650His",
"transcript": "NM_002340.6",
"protein_id": "NP_002331.3",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 732,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": "ENST00000397728.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.His650His",
"transcript": "ENST00000397728.8",
"protein_id": "ENSP00000380837.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 732,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": "NM_002340.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.His650His",
"transcript": "ENST00000356396.8",
"protein_id": "ENSP00000348762.3",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 732,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1710T>C",
"hgvs_p": "p.His570His",
"transcript": "ENST00000457828.6",
"protein_id": "ENSP00000409191.2",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 652,
"cds_start": 1710,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.His650His",
"transcript": "NM_001001438.3",
"protein_id": "NP_001001438.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 732,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1917T>C",
"hgvs_p": "p.His639His",
"transcript": "NM_001145436.2",
"protein_id": "NP_001138908.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 721,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1917T>C",
"hgvs_p": "p.His639His",
"transcript": "ENST00000522411.5",
"protein_id": "ENSP00000429133.1",
"transcript_support_level": 2,
"aa_start": 639,
"aa_end": null,
"aa_length": 721,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1710T>C",
"hgvs_p": "p.His570His",
"transcript": "NM_001145437.2",
"protein_id": "NP_001138909.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 652,
"cds_start": 1710,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.51T>C",
"hgvs_p": "p.His17His",
"transcript": "ENST00000419093.5",
"protein_id": "ENSP00000410678.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 135,
"cds_start": 51,
"cds_end": null,
"cds_length": 408,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"dbsnp": "rs2254522",
"frequency_reference_population": 0.21880943,
"hom_count_reference_population": 44346,
"allele_count_reference_population": 353049,
"gnomad_exomes_af": 0.215339,
"gnomad_genomes_af": 0.252122,
"gnomad_exomes_ac": 314667,
"gnomad_genomes_ac": 38382,
"gnomad_exomes_homalt": 39026,
"gnomad_genomes_homalt": 5320,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"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": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.657,
"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,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000397728.8",
"gene_symbol": "LSS",
"hgnc_id": 6708,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1950T>C",
"hgvs_p": "p.His650His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}