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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: 1-111780753-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111780753&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111780753,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000302127.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "NM_001378969.1",
"protein_id": "NP_001365898.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 655,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": "ENST00000302127.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000302127.5",
"protein_id": "ENSP00000306923.4",
"transcript_support_level": 5,
"aa_start": 436,
"aa_end": null,
"aa_length": 655,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": "NM_001378969.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000315987.6",
"protein_id": "ENSP00000319591.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 655,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "ENST00000369697.5",
"protein_id": "ENSP00000358711.1",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 636,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 7396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "NM_004980.5",
"protein_id": "NP_004971.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 655,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 7882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "NM_001378970.1",
"protein_id": "NP_001365899.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 636,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 7562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "NM_172198.3",
"protein_id": "NP_751948.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 636,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "XM_006710629.5",
"protein_id": "XP_006710692.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 655,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 7694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly",
"transcript": "XM_017001244.3",
"protein_id": "XP_016856733.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 655,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 7709,
"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": "KCND3",
"gene_hgnc_id": 6239,
"hgvs_c": "n.1999C>G",
"hgvs_p": null,
"transcript": "ENST00000703640.1",
"protein_id": null,
"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": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCND3",
"gene_hgnc_id": 6239,
"dbsnp": "rs190703406",
"frequency_reference_population": 0.00009172618,
"hom_count_reference_population": 0,
"allele_count_reference_population": 148,
"gnomad_exomes_af": 0.0000951281,
"gnomad_genomes_af": 0.00005909,
"gnomad_exomes_ac": 139,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.317,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000302127.5",
"gene_symbol": "KCND3",
"hgnc_id": 6239,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Gly436Gly"
}
],
"clinvar_disease": "Cardiovascular phenotype,Spinocerebellar ataxia type 19/22,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "Spinocerebellar ataxia type 19/22|not specified|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}