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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: 4-15052466-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15052466&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 15052466,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001177382.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2253T>C",
"hgvs_p": "p.Ser751Ser",
"transcript": "NM_001177382.2",
"protein_id": "NP_001170853.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2253,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 7069,
"mane_select": "ENST00000538197.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177382.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2253T>C",
"hgvs_p": "p.Ser751Ser",
"transcript": "ENST00000538197.7",
"protein_id": "ENSP00000443985.1",
"transcript_support_level": 5,
"aa_start": 751,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2253,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 7069,
"mane_select": "NM_001177382.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538197.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2229T>C",
"hgvs_p": "p.Ser743Ser",
"transcript": "ENST00000507071.6",
"protein_id": "ENSP00000424084.2",
"transcript_support_level": 1,
"aa_start": 743,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2229,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507071.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2163T>C",
"hgvs_p": "p.Ser721Ser",
"transcript": "ENST00000382395.8",
"protein_id": "ENSP00000371832.4",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2163,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382395.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2148T>C",
"hgvs_p": "p.Ser716Ser",
"transcript": "ENST00000382401.8",
"protein_id": "ENSP00000371838.4",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 999,
"cds_start": 2148,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 6771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382401.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2139T>C",
"hgvs_p": "p.Ser713Ser",
"transcript": "ENST00000345451.8",
"protein_id": "ENSP00000334058.4",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 996,
"cds_start": 2139,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345451.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2229T>C",
"hgvs_p": "p.Ser743Ser",
"transcript": "NM_182485.3",
"protein_id": "NP_872291.2",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2229,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 7045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182485.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2172T>C",
"hgvs_p": "p.Ser724Ser",
"transcript": "NM_001177381.2",
"protein_id": "NP_001170852.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2172,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177381.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2172T>C",
"hgvs_p": "p.Ser724Ser",
"transcript": "ENST00000442003.6",
"protein_id": "ENSP00000414270.2",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2172,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442003.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2163T>C",
"hgvs_p": "p.Ser721Ser",
"transcript": "NM_001177383.2",
"protein_id": "NP_001170854.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2163,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 6979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177383.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2148T>C",
"hgvs_p": "p.Ser716Ser",
"transcript": "NM_001177384.2",
"protein_id": "NP_001170855.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 999,
"cds_start": 2148,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177384.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2139T>C",
"hgvs_p": "p.Ser713Ser",
"transcript": "NM_182646.3",
"protein_id": "NP_872587.2",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 996,
"cds_start": 2139,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 6955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182646.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2262T>C",
"hgvs_p": "p.Ser754Ser",
"transcript": "XM_005248135.4",
"protein_id": "XP_005248192.2",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2262,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 7078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248135.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.2238T>C",
"hgvs_p": "p.Ser746Ser",
"transcript": "XM_011513777.4",
"protein_id": "XP_011512079.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 7054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513777.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "XM_017007733.2",
"protein_id": "XP_016863222.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 463,
"cds_start": 540,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007733.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Ser180Ser",
"transcript": "XM_017007734.3",
"protein_id": "XP_016863223.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 463,
"cds_start": 540,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007734.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.63T>C",
"hgvs_p": "p.Ser21Ser",
"transcript": "XM_047449609.1",
"protein_id": "XP_047305565.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 304,
"cds_start": 63,
"cds_end": null,
"cds_length": 915,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449609.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QTNF7-AS1",
"gene_hgnc_id": 40683,
"hgvs_c": "n.155-34585A>G",
"hgvs_p": null,
"transcript": "ENST00000502344.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 647,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000502344.6"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QTNF7-AS1",
"gene_hgnc_id": 40683,
"hgvs_c": "n.253+13792A>G",
"hgvs_p": null,
"transcript": "ENST00000513384.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 537,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513384.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QTNF7-AS1",
"gene_hgnc_id": 40683,
"hgvs_c": "n.155-34585A>G",
"hgvs_p": null,
"transcript": "NR_125911.1",
"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": 630,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125911.1"
}
],
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"dbsnp": "rs1260366595",
"frequency_reference_population": 0.000001389184,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138918,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.101,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001177382.2",
"gene_symbol": "CPEB2",
"hgnc_id": 21745,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2253T>C",
"hgvs_p": "p.Ser751Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000502344.6",
"gene_symbol": "C1QTNF7-AS1",
"hgnc_id": 40683,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.155-34585A>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
}