← Back to variant description
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: 17-41837948-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41837948&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41837948,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152467.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL10",
"gene_hgnc_id": 18829,
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Ala6Ser",
"transcript": "NM_152467.5",
"protein_id": "NP_689680.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 608,
"cds_start": 16,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": "ENST00000293303.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL10",
"gene_hgnc_id": 18829,
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Ala6Ser",
"transcript": "ENST00000293303.5",
"protein_id": "ENSP00000293303.4",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 608,
"cds_start": 16,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": "NM_152467.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL10",
"gene_hgnc_id": 18829,
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Ala6Ser",
"transcript": "NM_001329595.1",
"protein_id": "NP_001316524.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 608,
"cds_start": 16,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL10",
"gene_hgnc_id": 18829,
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Ala6Ser",
"transcript": "ENST00000438813.1",
"protein_id": "ENSP00000416221.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 151,
"cds_start": 16,
"cds_end": null,
"cds_length": 458,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL10",
"gene_hgnc_id": 18829,
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Ala6Ser",
"transcript": "ENST00000448203.2",
"protein_id": "ENSP00000391983.2",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 121,
"cds_start": 16,
"cds_end": null,
"cds_length": 366,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL10",
"gene_hgnc_id": 18829,
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Ala6Ser",
"transcript": "XM_047435897.1",
"protein_id": "XP_047291853.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 608,
"cds_start": 16,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "KLHL10",
"gene_hgnc_id": 18829,
"hgvs_c": "n.124G>T",
"hgvs_p": null,
"transcript": "ENST00000485613.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL10",
"gene_hgnc_id": 18829,
"hgvs_c": "c.-187G>T",
"hgvs_p": null,
"transcript": "NM_001329596.2",
"protein_id": "NP_001316525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KLHL10",
"gene_hgnc_id": 18829,
"dbsnp": "rs200592199",
"frequency_reference_population": 6.841555e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84156e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03515756130218506,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.397,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_152467.5",
"gene_symbol": "KLHL10",
"hgnc_id": 18829,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Ala6Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}