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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: 7-142942882-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=142942882&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 142942882,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000420.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.1934C>T",
"hgvs_p": "p.Ala645Val",
"transcript": "NM_000420.3",
"protein_id": "NP_000411.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 732,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "ENST00000355265.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.1934C>T",
"hgvs_p": "p.Ala645Val",
"transcript": "ENST00000355265.7",
"protein_id": "ENSP00000347409.2",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 732,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "NM_000420.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.1970C>T",
"hgvs_p": "p.Ala657Val",
"transcript": "XM_005249993.2",
"protein_id": "XP_005250050.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 744,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "c.1823C>T",
"hgvs_p": "p.Ala608Val",
"transcript": "XM_047420357.1",
"protein_id": "XP_047276313.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 695,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1980,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "n.234C>T",
"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": 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": "KEL",
"gene_hgnc_id": 6308,
"hgvs_c": "n.273C>T",
"hgvs_p": null,
"transcript": "ENST00000478969.1",
"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": 351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KEL",
"gene_hgnc_id": 6308,
"dbsnp": "rs147851584",
"frequency_reference_population": 0.00006133343,
"hom_count_reference_population": 0,
"allele_count_reference_population": 99,
"gnomad_exomes_af": 0.000058829,
"gnomad_genomes_af": 0.000085378,
"gnomad_exomes_ac": 86,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9243617653846741,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.685,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3479,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.896,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000420.3",
"gene_symbol": "KEL",
"hgnc_id": 6308,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.1934C>T",
"hgvs_p": "p.Ala645Val"
}
],
"clinvar_disease": "Kell blood group system",
"clinvar_classification": "Affects",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Kell blood group system",
"pathogenicity_classification_combined": "Affects",
"custom_annotations": null
}
],
"message": null
}