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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: 7-142943509-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=142943509&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 142943509,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000420.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.1680A>C",
"hgvs_p": "p.Pro560Pro",
"transcript": "NM_000420.3",
"protein_id": "NP_000411.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 732,
"cds_start": 1680,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "ENST00000355265.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.1680A>C",
"hgvs_p": "p.Pro560Pro",
"transcript": "ENST00000355265.7",
"protein_id": "ENSP00000347409.2",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 732,
"cds_start": 1680,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "NM_000420.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.1716A>C",
"hgvs_p": "p.Pro572Pro",
"transcript": "XM_005249993.2",
"protein_id": "XP_005250050.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 744,
"cds_start": 1716,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.1569A>C",
"hgvs_p": "p.Pro523Pro",
"transcript": "XM_047420357.1",
"protein_id": "XP_047276313.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 695,
"cds_start": 1569,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 2383,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "n.145A>C",
"hgvs_p": null,
"transcript": "ENST00000470850.1",
"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": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "n.*40A>C",
"hgvs_p": null,
"transcript": "ENST00000465697.1",
"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": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"dbsnp": "rs8176036",
"frequency_reference_population": 0.055114906,
"hom_count_reference_population": 3365,
"allele_count_reference_population": 88943,
"gnomad_exomes_af": 0.0516808,
"gnomad_genomes_af": 0.088095,
"gnomad_exomes_ac": 75536,
"gnomad_genomes_ac": 13407,
"gnomad_exomes_homalt": 2485,
"gnomad_genomes_homalt": 880,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"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": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.171,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000420.3",
"gene_symbol": "KEL",
"hgnc_id": 6308,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.1680A>C",
"hgvs_p": "p.Pro560Pro"
}
],
"clinvar_disease": "KEL-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "KEL-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}