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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: 19-17982043-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17982043&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17982043,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001386974.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "NM_001386974.1",
"protein_id": "NP_001373903.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 543,
"cds_start": 833,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": "ENST00000684775.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "ENST00000684775.1",
"protein_id": "ENSP00000507021.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 543,
"cds_start": 833,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": "NM_001386974.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "ENST00000222249.13",
"protein_id": "ENSP00000476519.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 543,
"cds_start": 833,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "NM_001386975.1",
"protein_id": "NP_001373904.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 546,
"cds_start": 833,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "NM_001386976.1",
"protein_id": "NP_001373905.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 546,
"cds_start": 833,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "ENST00000682733.1",
"protein_id": "ENSP00000507255.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 546,
"cds_start": 833,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "ENST00000683588.1",
"protein_id": "ENSP00000507977.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 546,
"cds_start": 833,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "NM_002248.5",
"protein_id": "NP_002239.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 543,
"cds_start": 833,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "ENST00000615435.2",
"protein_id": "ENSP00000484926.2",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 543,
"cds_start": 833,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "NM_001386977.1",
"protein_id": "NP_001373906.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 540,
"cds_start": 833,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "ENST00000682421.1",
"protein_id": "ENSP00000507047.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 540,
"cds_start": 833,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "ENST00000684725.1",
"protein_id": "ENSP00000506918.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 540,
"cds_start": 833,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr",
"transcript": "ENST00000609922.2",
"protein_id": "ENSP00000477114.2",
"transcript_support_level": 3,
"aa_start": 278,
"aa_end": null,
"aa_length": 389,
"cds_start": 833,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "c.1082T>C",
"hgvs_p": "p.Met361Thr",
"transcript": "XM_011528004.2",
"protein_id": "XP_011526306.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 626,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3603,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "n.833T>C",
"hgvs_p": null,
"transcript": "ENST00000682726.1",
"protein_id": "ENSP00000507833.1",
"transcript_support_level": null,
"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": 3595,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "n.833T>C",
"hgvs_p": null,
"transcript": "ENST00000683930.1",
"protein_id": "ENSP00000507101.1",
"transcript_support_level": null,
"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": 3563,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "n.1125T>C",
"hgvs_p": null,
"transcript": "NR_170373.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3587,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"hgvs_c": "n.1125T>C",
"hgvs_p": null,
"transcript": "NR_170374.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNN1",
"gene_hgnc_id": 6290,
"dbsnp": "rs1433673603",
"frequency_reference_population": 6.8604515e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86045e-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": 0.8131053447723389,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.577,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9111,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.61,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.817,
"phylop100way_prediction": "Pathogenic",
"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": "NM_001386974.1",
"gene_symbol": "KCNN1",
"hgnc_id": 6290,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.833T>C",
"hgvs_p": "p.Met278Thr"
}
],
"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
}