← 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: 20-35626801-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35626801&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35626801,
"ref": "T",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000437340.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1239A>G",
"hgvs_p": "p.Gln413Gln",
"transcript": "NM_152925.3",
"protein_id": "NP_690902.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 537,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": "ENST00000397443.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1239A>G",
"hgvs_p": "p.Gln413Gln",
"transcript": "ENST00000397443.7",
"protein_id": "ENSP00000380585.1",
"transcript_support_level": 5,
"aa_start": 413,
"aa_end": null,
"aa_length": 537,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": "NM_152925.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1254A>G",
"hgvs_p": "p.Gln418Gln",
"transcript": "ENST00000317677.9",
"protein_id": "ENSP00000317257.5",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 542,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1239A>G",
"hgvs_p": "p.Gln413Gln",
"transcript": "ENST00000352393.8",
"protein_id": "ENSP00000336945.4",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 537,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1237-1A>G",
"hgvs_p": null,
"transcript": "ENST00000437340.5",
"protein_id": "ENSP00000415597.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1254A>G",
"hgvs_p": "p.Gln418Gln",
"transcript": "NM_003915.6",
"protein_id": "NP_003906.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 542,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1239A>G",
"hgvs_p": "p.Gln413Gln",
"transcript": "NM_152926.3",
"protein_id": "NP_690903.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 537,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1239A>G",
"hgvs_p": "p.Gln413Gln",
"transcript": "NM_152927.3",
"protein_id": "NP_690904.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 537,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1239A>G",
"hgvs_p": "p.Gln413Gln",
"transcript": "NM_152928.3",
"protein_id": "NP_690905.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 537,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1239A>G",
"hgvs_p": "p.Gln413Gln",
"transcript": "ENST00000397442.5",
"protein_id": "ENSP00000380584.1",
"transcript_support_level": 5,
"aa_start": 413,
"aa_end": null,
"aa_length": 481,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.153A>G",
"hgvs_p": "p.Gln51Gln",
"transcript": "ENST00000415920.5",
"protein_id": "ENSP00000396069.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 207,
"cds_start": 153,
"cds_end": null,
"cds_length": 624,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 731,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "n.1262A>G",
"hgvs_p": null,
"transcript": "ENST00000401607.6",
"protein_id": "ENSP00000386067.2",
"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": 1795,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "n.53A>G",
"hgvs_p": null,
"transcript": "ENST00000462352.5",
"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": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "n.64A>G",
"hgvs_p": null,
"transcript": "ENST00000473373.1",
"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": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "n.1417A>G",
"hgvs_p": null,
"transcript": "ENST00000483359.5",
"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": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "n.1323A>G",
"hgvs_p": null,
"transcript": "ENST00000483495.5",
"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": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "n.255A>G",
"hgvs_p": null,
"transcript": "ENST00000498056.1",
"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": 362,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "n.146A>G",
"hgvs_p": null,
"transcript": "ENST00000498814.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "n.1576A>G",
"hgvs_p": null,
"transcript": "NR_037188.2",
"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": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"hgvs_c": "c.1237-1A>G",
"hgvs_p": null,
"transcript": "NM_001198863.2",
"protein_id": "NP_001185792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPNE1",
"gene_hgnc_id": 2314,
"dbsnp": "rs2425068",
"frequency_reference_population": 0.06117596,
"hom_count_reference_population": 3430,
"allele_count_reference_population": 98686,
"gnomad_exomes_af": 0.062637,
"gnomad_genomes_af": 0.0471542,
"gnomad_exomes_ac": 91508,
"gnomad_genomes_ac": 7178,
"gnomad_exomes_homalt": 3169,
"gnomad_genomes_homalt": 261,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19300000369548798,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.9800000190734863,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.0618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.131,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.98,
"spliceai_max_prediction": "Pathogenic",
"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": "Likely_benign",
"acmg_criteria": "PVS1_Strong,BA1",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 8,
"pathogenic_score": 4,
"criteria": [
"PVS1_Strong",
"BA1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000437340.5",
"gene_symbol": "CPNE1",
"hgnc_id": 2314,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1237-1A>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
}