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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: 10-5218719-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5218719&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5218719,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001818.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Phe",
"transcript": "NM_001818.5",
"protein_id": "NP_001809.4",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 323,
"cds_start": 931,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263126.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001818.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Phe",
"transcript": "ENST00000263126.3",
"protein_id": "ENSP00000263126.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 323,
"cds_start": 931,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001818.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263126.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Leu326Phe",
"transcript": "ENST00000901611.1",
"protein_id": "ENSP00000571670.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 338,
"cds_start": 976,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901611.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Phe",
"transcript": "ENST00000380448.5",
"protein_id": "ENSP00000369814.1",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 323,
"cds_start": 931,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380448.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Leu302Phe",
"transcript": "ENST00000901610.1",
"protein_id": "ENSP00000571669.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 314,
"cds_start": 904,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901610.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Leu302Phe",
"transcript": "ENST00000901613.1",
"protein_id": "ENSP00000571672.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 314,
"cds_start": 904,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901613.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Leu285Phe",
"transcript": "ENST00000901612.1",
"protein_id": "ENSP00000571671.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 297,
"cds_start": 853,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901612.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Leu276Phe",
"transcript": "ENST00000901615.1",
"protein_id": "ENSP00000571674.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 288,
"cds_start": 826,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901615.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Leu255Phe",
"transcript": "ENST00000901618.1",
"protein_id": "ENSP00000571677.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 267,
"cds_start": 763,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901618.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Leu246Phe",
"transcript": "ENST00000901617.1",
"protein_id": "ENSP00000571676.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 258,
"cds_start": 736,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901617.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Leu219Phe",
"transcript": "ENST00000901614.1",
"protein_id": "ENSP00000571673.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 231,
"cds_start": 655,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901614.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Leu190Phe",
"transcript": "ENST00000901616.1",
"protein_id": "ENSP00000571675.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 202,
"cds_start": 568,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901616.1"
}
],
"gene_symbol": "AKR1C4",
"gene_hgnc_id": 387,
"dbsnp": "rs17134592",
"frequency_reference_population": 0.000020668378,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000152295,
"gnomad_genomes_af": 0.0000723332,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02257421612739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.014000000432133675,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1959,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.498,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.00000867294631984677,
"dbscsnv_ada_prediction": "Benign",
"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_001818.5",
"gene_symbol": "AKR1C4",
"hgnc_id": 387,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}