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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: 1-154714922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154714922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154714922,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000271915.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Ala595Thr",
"transcript": "NM_002249.6",
"protein_id": "NP_002240.3",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 731,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 13034,
"mane_select": "ENST00000271915.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Ala595Thr",
"transcript": "ENST00000271915.9",
"protein_id": "ENSP00000271915.3",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 731,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 13034,
"mane_select": "NM_002249.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "ENST00000361147.8",
"protein_id": "ENSP00000354764.4",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 426,
"cds_start": 868,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "ENST00000358505.2",
"protein_id": "ENSP00000351295.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 418,
"cds_start": 844,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Ala610Thr",
"transcript": "NM_001204087.2",
"protein_id": "NP_001191016.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 746,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 13079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Ala610Thr",
"transcript": "ENST00000618040.4",
"protein_id": "ENSP00000481848.1",
"transcript_support_level": 5,
"aa_start": 610,
"aa_end": null,
"aa_length": 746,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 13057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Ala297Thr",
"transcript": "NM_001365837.1",
"protein_id": "NP_001352766.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 433,
"cds_start": 889,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 11944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Ala290Thr",
"transcript": "NM_170782.3",
"protein_id": "NP_740752.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 426,
"cds_start": 868,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 11966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "NM_001365838.1",
"protein_id": "NP_001352767.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 418,
"cds_start": 844,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 11899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"dbsnp": "rs1213266406",
"frequency_reference_population": 0.0000030986498,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273684,
"gnomad_genomes_af": 0.00000657618,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2712830603122711,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.456,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.641,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000271915.9",
"gene_symbol": "KCNN3",
"hgnc_id": 6292,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Ala595Thr"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}