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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: 17-40928252-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40928252&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40928252,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000209718.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.907A>T",
"hgvs_p": "p.Thr303Ser",
"transcript": "NM_015515.5",
"protein_id": "NP_056330.3",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 422,
"cds_start": 907,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": "ENST00000209718.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.907A>T",
"hgvs_p": "p.Thr303Ser",
"transcript": "ENST00000209718.8",
"protein_id": "ENSP00000209718.3",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 422,
"cds_start": 907,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": "NM_015515.5",
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "n.*225A>T",
"hgvs_p": null,
"transcript": "ENST00000462312.5",
"protein_id": "ENSP00000462335.1",
"transcript_support_level": 1,
"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": 1462,
"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": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "n.1139A>T",
"hgvs_p": null,
"transcript": "ENST00000582754.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1567,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "n.*225A>T",
"hgvs_p": null,
"transcript": "ENST00000462312.5",
"protein_id": "ENSP00000462335.1",
"transcript_support_level": 1,
"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": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.496A>T",
"hgvs_p": "p.Thr166Ser",
"transcript": "NM_001282433.2",
"protein_id": "NP_001269362.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 285,
"cds_start": 496,
"cds_end": null,
"cds_length": 858,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.496A>T",
"hgvs_p": "p.Thr166Ser",
"transcript": "ENST00000436344.7",
"protein_id": "ENSP00000414056.3",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 285,
"cds_start": 496,
"cds_end": null,
"cds_length": 858,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.907A>T",
"hgvs_p": "p.Thr303Ser",
"transcript": "XM_047435726.1",
"protein_id": "XP_047291682.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 422,
"cds_start": 907,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.907A>T",
"hgvs_p": "p.Thr303Ser",
"transcript": "XM_047435727.1",
"protein_id": "XP_047291683.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 422,
"cds_start": 907,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.907A>T",
"hgvs_p": "p.Thr303Ser",
"transcript": "XM_047435728.1",
"protein_id": "XP_047291684.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 422,
"cds_start": 907,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.907A>T",
"hgvs_p": "p.Thr303Ser",
"transcript": "XM_047435729.1",
"protein_id": "XP_047291685.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 422,
"cds_start": 907,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.496A>T",
"hgvs_p": "p.Thr166Ser",
"transcript": "XM_005257200.6",
"protein_id": "XP_005257257.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 285,
"cds_start": 496,
"cds_end": null,
"cds_length": 858,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "c.496A>T",
"hgvs_p": "p.Thr166Ser",
"transcript": "XM_011524595.3",
"protein_id": "XP_011522897.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 285,
"cds_start": 496,
"cds_end": null,
"cds_length": 858,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1331,
"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": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "n.*225A>T",
"hgvs_p": null,
"transcript": "ENST00000494691.5",
"protein_id": "ENSP00000464548.1",
"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": 700,
"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": "KRT23",
"gene_hgnc_id": 6438,
"hgvs_c": "n.*225A>T",
"hgvs_p": null,
"transcript": "ENST00000494691.5",
"protein_id": "ENSP00000464548.1",
"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": 700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234477",
"gene_hgnc_id": null,
"hgvs_c": "n.61-7T>A",
"hgvs_p": null,
"transcript": "ENST00000418393.1",
"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": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KRT23",
"gene_hgnc_id": 6438,
"dbsnp": "rs9257",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029162943363189697,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.12,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.353,
"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": "ENST00000209718.8",
"gene_symbol": "KRT23",
"hgnc_id": 6438,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.907A>T",
"hgvs_p": "p.Thr303Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000418393.1",
"gene_symbol": "ENSG00000234477",
"hgnc_id": null,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.61-7T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}