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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: 1-26951452-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26951452&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26951452,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152365.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "NM_152365.3",
"protein_id": "NP_689578.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320567.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152365.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000320567.6",
"protein_id": "ENSP00000319179.5",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152365.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320567.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000866899.1",
"protein_id": "ENSP00000536958.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866899.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000866900.1",
"protein_id": "ENSP00000536959.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866900.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000866901.1",
"protein_id": "ENSP00000536960.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866901.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000866902.1",
"protein_id": "ENSP00000536961.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866902.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000866903.1",
"protein_id": "ENSP00000536962.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866903.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000866904.1",
"protein_id": "ENSP00000536963.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866904.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000912093.1",
"protein_id": "ENSP00000582152.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912093.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000912092.1",
"protein_id": "ENSP00000582151.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 373,
"cds_start": 929,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912092.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "XM_005245735.3",
"protein_id": "XP_005245792.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245735.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "XM_011540622.3",
"protein_id": "XP_011538924.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 929,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540622.3"
}
],
"gene_symbol": "KDF1",
"gene_hgnc_id": 26624,
"dbsnp": "rs150297466",
"frequency_reference_population": 0.000013013475,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000116321,
"gnomad_genomes_af": 0.0000262743,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2707759141921997,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.2829,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.369,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_152365.3",
"gene_symbol": "KDF1",
"hgnc_id": 26624,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}