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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: 1-154708031-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154708031&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154708031,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002249.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.2141T>C",
"hgvs_p": "p.Ile714Thr",
"transcript": "NM_002249.6",
"protein_id": "NP_002240.3",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 731,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 13034,
"mane_select": "ENST00000271915.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.2141T>C",
"hgvs_p": "p.Ile714Thr",
"transcript": "ENST00000271915.9",
"protein_id": "ENSP00000271915.3",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 731,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 13034,
"mane_select": "NM_002249.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Ile409Thr",
"transcript": "ENST00000361147.8",
"protein_id": "ENSP00000354764.4",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 426,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1202T>C",
"hgvs_p": "p.Ile401Thr",
"transcript": "ENST00000358505.2",
"protein_id": "ENSP00000351295.2",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 418,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.2186T>C",
"hgvs_p": "p.Ile729Thr",
"transcript": "NM_001204087.2",
"protein_id": "NP_001191016.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 746,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 13079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.2186T>C",
"hgvs_p": "p.Ile729Thr",
"transcript": "ENST00000618040.4",
"protein_id": "ENSP00000481848.1",
"transcript_support_level": 5,
"aa_start": 729,
"aa_end": null,
"aa_length": 746,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 13057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1247T>C",
"hgvs_p": "p.Ile416Thr",
"transcript": "NM_001365837.1",
"protein_id": "NP_001352766.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 433,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 11944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Ile409Thr",
"transcript": "NM_170782.3",
"protein_id": "NP_740752.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 426,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 11966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "c.1202T>C",
"hgvs_p": "p.Ile401Thr",
"transcript": "NM_001365838.1",
"protein_id": "NP_001352767.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 418,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 11899,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"hgvs_c": "n.196T>C",
"hgvs_p": null,
"transcript": "ENST00000515643.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNN3",
"gene_hgnc_id": 6292,
"dbsnp": "rs76925601",
"frequency_reference_population": 0.00019402093,
"hom_count_reference_population": 1,
"allele_count_reference_population": 313,
"gnomad_exomes_af": 0.000192316,
"gnomad_genomes_af": 0.000210396,
"gnomad_exomes_ac": 281,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008377313613891602,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.763,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_002249.6",
"gene_symbol": "KCNN3",
"hgnc_id": 6292,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.2141T>C",
"hgvs_p": "p.Ile714Thr"
}
],
"clinvar_disease": "Inborn genetic diseases,Zimmermann-Laband syndrome 3,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Inborn genetic diseases|Zimmermann-Laband syndrome 3|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}