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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: 7-142943026-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=142943026&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KEL",
"hgnc_id": 6308,
"hgvs_c": "c.1790T>C",
"hgvs_p": "p.Leu597Pro",
"inheritance_mode": "BG",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000420.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 8033,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0434,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "Kel6 antigen,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0025378763675689697,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 732,
"aa_ref": "L",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_000420.3",
"gene_hgnc_id": 6308,
"gene_symbol": "KEL",
"hgvs_c": "c.1790T>C",
"hgvs_p": "p.Leu597Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355265.7",
"protein_coding": true,
"protein_id": "NP_000411.1",
"strand": false,
"transcript": "NM_000420.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 732,
"aa_ref": "L",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000355265.7",
"gene_hgnc_id": 6308,
"gene_symbol": "KEL",
"hgvs_c": "c.1790T>C",
"hgvs_p": "p.Leu597Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000420.3",
"protein_coding": true,
"protein_id": "ENSP00000347409.2",
"strand": false,
"transcript": "ENST00000355265.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 674,
"aa_ref": "L",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000949853.1",
"gene_hgnc_id": 6308,
"gene_symbol": "KEL",
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619912.1",
"strand": false,
"transcript": "ENST00000949853.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 744,
"aa_ref": "L",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_005249993.2",
"gene_hgnc_id": 6308,
"gene_symbol": "KEL",
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250050.1",
"strand": false,
"transcript": "XM_005249993.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 695,
"aa_ref": "L",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047420357.1",
"gene_hgnc_id": 6308,
"gene_symbol": "KEL",
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Leu560Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276313.1",
"strand": false,
"transcript": "XM_047420357.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 351,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000478969.1",
"gene_hgnc_id": 6308,
"gene_symbol": "KEL",
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478969.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470850.1",
"gene_hgnc_id": 6308,
"gene_symbol": "KEL",
"hgvs_c": "n.169-79T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470850.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs8176038",
"effect": "missense_variant",
"frequency_reference_population": 0.0049767178,
"gene_hgnc_id": 6308,
"gene_symbol": "KEL",
"gnomad_exomes_ac": 4217,
"gnomad_exomes_af": 0.00288474,
"gnomad_exomes_homalt": 147,
"gnomad_genomes_ac": 3816,
"gnomad_genomes_af": 0.0250581,
"gnomad_genomes_homalt": 165,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 312,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Kel6 antigen|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.569,
"pos": 142943026,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.177,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000420.3"
}
]
}