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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: 17-41516818-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41516818&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41516818,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000254043.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Asn243Ser",
"transcript": "NM_002275.4",
"protein_id": "NP_002266.3",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 456,
"cds_start": 728,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": "ENST00000254043.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Asn243Ser",
"transcript": "ENST00000254043.8",
"protein_id": "ENSP00000254043.3",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 456,
"cds_start": 728,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": "NM_002275.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Asn78Ser",
"transcript": "ENST00000393974.7",
"protein_id": "ENSP00000377544.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 291,
"cds_start": 233,
"cds_end": null,
"cds_length": 876,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Asn243Ser",
"transcript": "ENST00000393976.6",
"protein_id": "ENSP00000377546.1",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 456,
"cds_start": 728,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Asn78Ser",
"transcript": "ENST00000458290.5",
"protein_id": "ENSP00000409282.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 219,
"cds_start": 233,
"cds_end": null,
"cds_length": 662,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Asn243Ser",
"transcript": "XM_011524784.4",
"protein_id": "XP_011523086.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 463,
"cds_start": 728,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Asn243Ser",
"transcript": "XM_017024614.3",
"protein_id": "XP_016880103.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 437,
"cds_start": 728,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1392,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "n.579A>G",
"hgvs_p": null,
"transcript": "ENST00000463447.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 877,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "n.*439A>G",
"hgvs_p": null,
"transcript": "ENST00000470004.1",
"protein_id": "ENSP00000467875.1",
"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": 780,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "n.369A>G",
"hgvs_p": null,
"transcript": "ENST00000474031.5",
"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": 2614,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "n.*70A>G",
"hgvs_p": null,
"transcript": "ENST00000497016.5",
"protein_id": "ENSP00000466687.1",
"transcript_support_level": 5,
"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": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "n.*439A>G",
"hgvs_p": null,
"transcript": "ENST00000470004.1",
"protein_id": "ENSP00000467875.1",
"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": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"hgvs_c": "n.*70A>G",
"hgvs_p": null,
"transcript": "ENST00000497016.5",
"protein_id": "ENSP00000466687.1",
"transcript_support_level": 5,
"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": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KRT15",
"gene_hgnc_id": 6421,
"dbsnp": "rs749277399",
"frequency_reference_population": 0.000012390729,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000123131,
"gnomad_genomes_af": 0.0000131358,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7799659967422485,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.7,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2457,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.98,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000254043.8",
"gene_symbol": "KRT15",
"hgnc_id": 6421,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Asn243Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}