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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: 1-196258346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196258346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196258346,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198503.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Lys",
"transcript": "NM_198503.5",
"protein_id": "NP_940905.2",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3059,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294725.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198503.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Lys",
"transcript": "ENST00000294725.14",
"protein_id": "ENSP00000294725.8",
"transcript_support_level": 1,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3059,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198503.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294725.14"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.2987G>A",
"hgvs_p": "p.Arg996Lys",
"transcript": "ENST00000367433.9",
"protein_id": "ENSP00000356403.5",
"transcript_support_level": 1,
"aa_start": 996,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2987,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367433.9"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.2858G>A",
"hgvs_p": "p.Arg953Lys",
"transcript": "ENST00000609185.5",
"protein_id": "ENSP00000476657.1",
"transcript_support_level": 1,
"aa_start": 953,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000609185.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3029G>A",
"hgvs_p": "p.Arg1010Lys",
"transcript": "ENST00000882026.1",
"protein_id": "ENSP00000552085.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882026.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.2987G>A",
"hgvs_p": "p.Arg996Lys",
"transcript": "NM_001287819.3",
"protein_id": "NP_001274748.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2987,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287819.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.2858G>A",
"hgvs_p": "p.Arg953Lys",
"transcript": "NM_001287820.3",
"protein_id": "NP_001274749.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287820.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3080G>A",
"hgvs_p": "p.Arg1027Lys",
"transcript": "XM_006711294.4",
"protein_id": "XP_006711357.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3080,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711294.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3008G>A",
"hgvs_p": "p.Arg1003Lys",
"transcript": "XM_006711295.4",
"protein_id": "XP_006711358.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1118,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711295.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.2933G>A",
"hgvs_p": "p.Arg978Lys",
"transcript": "XM_017001185.3",
"protein_id": "XP_016856674.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001185.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.1910G>A",
"hgvs_p": "p.Arg637Lys",
"transcript": "XM_017001181.2",
"protein_id": "XP_016856670.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 752,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001181.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Lys",
"transcript": "XM_017001183.2",
"protein_id": "XP_016856672.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 663,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001183.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.2367G>A",
"hgvs_p": null,
"transcript": "ENST00000498426.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000498426.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.3205G>A",
"hgvs_p": null,
"transcript": "ENST00000610076.1",
"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": "pseudogene",
"feature": "ENST00000610076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.*826G>A",
"hgvs_p": null,
"transcript": "ENST00000647658.1",
"protein_id": "ENSP00000496885.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000647658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.3081G>A",
"hgvs_p": null,
"transcript": "NR_146057.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_146057.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.3273G>A",
"hgvs_p": null,
"transcript": "NR_146058.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_146058.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.*826G>A",
"hgvs_p": null,
"transcript": "ENST00000647658.1",
"protein_id": "ENSP00000496885.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000647658.1"
}
],
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"dbsnp": "rs147308415",
"frequency_reference_population": 0.000004104478,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410448,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18433335423469543,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.248,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.561,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_198503.5",
"gene_symbol": "KCNT2",
"hgnc_id": 18866,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020Lys"
}
],
"clinvar_disease": "KCNT2-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "KCNT2-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}