← Back to variant description
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: 1-196228225-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196228225&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196228225,
"ref": "C",
"alt": "A",
"effect": "stop_lost",
"transcript": "NM_198503.5",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3407G>T",
"hgvs_p": "p.Ter1136Leuext*?",
"transcript": "NM_198503.5",
"protein_id": "NP_940905.2",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3407,
"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": "*",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3407G>T",
"hgvs_p": "p.Ter1136Leuext*?",
"transcript": "ENST00000294725.14",
"protein_id": "ENSP00000294725.8",
"transcript_support_level": 1,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3407,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3335G>T",
"hgvs_p": "p.Ter1112Leuext*?",
"transcript": "ENST00000367433.9",
"protein_id": "ENSP00000356403.5",
"transcript_support_level": 1,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3335,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3206G>T",
"hgvs_p": "p.Ter1069Leuext*?",
"transcript": "ENST00000609185.5",
"protein_id": "ENSP00000476657.1",
"transcript_support_level": 1,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3206,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3377G>T",
"hgvs_p": "p.Ter1126Leuext*?",
"transcript": "ENST00000882026.1",
"protein_id": "ENSP00000552085.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3377,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3335G>T",
"hgvs_p": "p.Ter1112Leuext*?",
"transcript": "NM_001287819.3",
"protein_id": "NP_001274748.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3335,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3206G>T",
"hgvs_p": "p.Ter1069Leuext*?",
"transcript": "NM_001287820.3",
"protein_id": "NP_001274749.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3206,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3428G>T",
"hgvs_p": "p.Ter1143Leuext*?",
"transcript": "XM_006711294.4",
"protein_id": "XP_006711357.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3428,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.3356G>T",
"hgvs_p": "p.Ter1119Leuext*?",
"transcript": "XM_006711295.4",
"protein_id": "XP_006711358.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1118,
"cds_start": 3356,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.2258G>T",
"hgvs_p": "p.Ter753Leuext*?",
"transcript": "XM_017001181.2",
"protein_id": "XP_016856670.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 752,
"cds_start": 2258,
"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": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.1991G>T",
"hgvs_p": "p.Ter664Leuext*?",
"transcript": "XM_017001183.2",
"protein_id": "XP_016856672.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 663,
"cds_start": 1991,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.2715G>T",
"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": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.*1174G>T",
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.3429G>T",
"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": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.3621G>T",
"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": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.*1174G>T",
"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": "rs760199544",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.145,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198503.5",
"gene_symbol": "KCNT2",
"hgnc_id": 18866,
"effects": [
"stop_lost"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3407G>T",
"hgvs_p": "p.Ter1136Leuext*?"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}