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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: 1-196456003-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196456003&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196456003,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000294725.14",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "NM_198503.5",
"protein_id": "NP_940905.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5984,
"mane_select": "ENST00000294725.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "ENST00000294725.14",
"protein_id": "ENSP00000294725.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5984,
"mane_select": "NM_198503.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "ENST00000367433.9",
"protein_id": "ENSP00000356403.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1111,
"cds_start": -4,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "ENST00000609185.5",
"protein_id": "ENSP00000476657.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.18+9290T>G",
"hgvs_p": null,
"transcript": "ENST00000451324.6",
"protein_id": "ENSP00000405474.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "NM_001287819.3",
"protein_id": "NP_001274748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1111,
"cds_start": -4,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "NM_001287820.3",
"protein_id": "NP_001274749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.95+9290T>G",
"hgvs_p": null,
"transcript": "ENST00000498426.5",
"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": 5157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.814+9290T>G",
"hgvs_p": null,
"transcript": "ENST00000610076.1",
"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": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.638+9290T>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.769+9290T>G",
"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": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.769+9290T>G",
"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": -4,
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"cdna_start": null,
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"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "XM_006711294.4",
"protein_id": "XP_006711357.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "XM_006711295.4",
"protein_id": "XP_006711358.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.563+9290T>G",
"hgvs_p": null,
"transcript": "XM_017001185.3",
"protein_id": "XP_016856674.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "XM_017001179.3",
"protein_id": "XP_016856668.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 8,
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"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "XM_017001180.3",
"protein_id": "XP_016856669.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null,
"transcript": "XM_011509483.4",
"protein_id": "XP_011507785.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.769+9290T>G",
"hgvs_p": null,
"transcript": "XR_001737149.3",
"protein_id": null,
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"aa_length": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"hgvs_c": "n.769+9290T>G",
"hgvs_p": null,
"transcript": "XR_001737151.3",
"protein_id": null,
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"cdna_length": 2619,
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"feature": null
}
],
"gene_symbol": "KCNT2",
"gene_hgnc_id": 18866,
"dbsnp": "rs10494743",
"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": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.194,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000294725.14",
"gene_symbol": "KCNT2",
"hgnc_id": 18866,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.638+9290T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}