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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: 11-17779576-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17779576&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17779576,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265969.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "c.1625G>C",
"hgvs_p": "p.Arg542Thr",
"transcript": "NM_001112741.2",
"protein_id": "NP_001106212.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 585,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": "ENST00000265969.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "c.1625G>C",
"hgvs_p": "p.Arg542Thr",
"transcript": "ENST00000265969.8",
"protein_id": "ENSP00000265969.7",
"transcript_support_level": 5,
"aa_start": 542,
"aa_end": null,
"aa_length": 585,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": "NM_001112741.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "c.1625G>C",
"hgvs_p": "p.Arg542Thr",
"transcript": "ENST00000639325.2",
"protein_id": "ENSP00000492663.2",
"transcript_support_level": 5,
"aa_start": 542,
"aa_end": null,
"aa_length": 625,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "c.1625G>C",
"hgvs_p": "p.Arg542Thr",
"transcript": "ENST00000640318.2",
"protein_id": "ENSP00000491189.2",
"transcript_support_level": 5,
"aa_start": 542,
"aa_end": null,
"aa_length": 625,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "c.1625G>C",
"hgvs_p": "p.Arg542Thr",
"transcript": "ENST00000675775.1",
"protein_id": "ENSP00000502716.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 566,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "c.161G>C",
"hgvs_p": "p.Arg54Thr",
"transcript": "ENST00000638825.1",
"protein_id": "ENSP00000491247.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 78,
"cds_start": 161,
"cds_end": null,
"cds_length": 237,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 3102,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "n.401G>C",
"hgvs_p": null,
"transcript": "ENST00000525802.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 525,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "n.405G>C",
"hgvs_p": null,
"transcript": "ENST00000526029.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1859,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "n.*109G>C",
"hgvs_p": null,
"transcript": "ENST00000638366.1",
"protein_id": "ENSP00000491016.1",
"transcript_support_level": 5,
"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": 660,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "n.326G>C",
"hgvs_p": null,
"transcript": "ENST00000638395.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 849,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "n.1625G>C",
"hgvs_p": null,
"transcript": "ENST00000640909.2",
"protein_id": "ENSP00000491644.2",
"transcript_support_level": 5,
"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": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "n.*109G>C",
"hgvs_p": null,
"transcript": "ENST00000638366.1",
"protein_id": "ENSP00000491016.1",
"transcript_support_level": 5,
"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": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "c.406+6978G>C",
"hgvs_p": null,
"transcript": "ENST00000639495.1",
"protein_id": "ENSP00000491700.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": -4,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"hgvs_c": "c.70+6978G>C",
"hgvs_p": null,
"transcript": "ENST00000640461.1",
"protein_id": "ENSP00000491345.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": -4,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNC1",
"gene_hgnc_id": 6233,
"dbsnp": "rs1021551048",
"frequency_reference_population": 0.0000014293391,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142934,
"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": 0.4408192038536072,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.719,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.573,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000265969.8",
"gene_symbol": "KCNC1",
"hgnc_id": 6233,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1625G>C",
"hgvs_p": "p.Arg542Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}