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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: 17-75758228-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75758228&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75758228,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000154.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.His363Gln",
"transcript": "NM_000154.2",
"protein_id": "NP_000145.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 392,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000588479.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000154.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.His363Gln",
"transcript": "ENST00000588479.6",
"protein_id": "ENSP00000465930.1",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 392,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000154.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588479.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1185C>G",
"hgvs_p": "p.His395Gln",
"transcript": "ENST00000864472.1",
"protein_id": "ENSP00000534531.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 424,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864472.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1182C>G",
"hgvs_p": "p.His394Gln",
"transcript": "ENST00000864469.1",
"protein_id": "ENSP00000534528.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 423,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864469.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1140C>G",
"hgvs_p": "p.His380Gln",
"transcript": "ENST00000864468.1",
"protein_id": "ENSP00000534527.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 409,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864468.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1140C>G",
"hgvs_p": "p.His380Gln",
"transcript": "ENST00000864470.1",
"protein_id": "ENSP00000534529.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 409,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864470.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.His363Gln",
"transcript": "NM_001381985.1",
"protein_id": "NP_001368914.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 392,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381985.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.His363Gln",
"transcript": "ENST00000225614.6",
"protein_id": "ENSP00000225614.1",
"transcript_support_level": 2,
"aa_start": 363,
"aa_end": null,
"aa_length": 392,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225614.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.His363Gln",
"transcript": "ENST00000956675.1",
"protein_id": "ENSP00000626734.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 391,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956675.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.His358Gln",
"transcript": "ENST00000864471.1",
"protein_id": "ENSP00000534530.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 387,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864471.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.1062C>G",
"hgvs_p": "p.His354Gln",
"transcript": "ENST00000864474.1",
"protein_id": "ENSP00000534533.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 383,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864474.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.999C>G",
"hgvs_p": "p.His333Gln",
"transcript": "ENST00000592997.6",
"protein_id": "ENSP00000464765.2",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 362,
"cds_start": 999,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592997.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.978C>G",
"hgvs_p": "p.His326Gln",
"transcript": "ENST00000864473.1",
"protein_id": "ENSP00000534532.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 355,
"cds_start": 978,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864473.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.969C>G",
"hgvs_p": "p.His323Gln",
"transcript": "ENST00000937574.1",
"protein_id": "ENSP00000607633.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 352,
"cds_start": 969,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937574.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.771C>G",
"hgvs_p": "p.His257Gln",
"transcript": "ENST00000937573.1",
"protein_id": "ENSP00000607632.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 286,
"cds_start": 771,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.958-101C>G",
"hgvs_p": null,
"transcript": "ENST00000956674.1",
"protein_id": "ENSP00000626733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "n.291C>G",
"hgvs_p": null,
"transcript": "ENST00000586733.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586733.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "n.161-101C>G",
"hgvs_p": null,
"transcript": "ENST00000589643.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000589643.1"
}
],
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"dbsnp": "rs200502537",
"frequency_reference_population": 0.0000013770311,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137703,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03872987627983093,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.0861,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.895,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000154.2",
"gene_symbol": "GALK1",
"hgnc_id": 4118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.His363Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}