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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: 4-15040480-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15040480&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CPEB2",
"hgnc_id": 21745,
"hgvs_c": "c.2193A>C",
"hgvs_p": "p.Arg731Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001177382.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C1QTNF7-AS1",
"hgnc_id": 40683,
"hgvs_c": "n.155-22599T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000502344.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7069,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2193,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001177382.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2193A>C",
"hgvs_p": "p.Arg731Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000538197.7",
"protein_coding": true,
"protein_id": "NP_001170853.1",
"strand": true,
"transcript": "NM_001177382.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7069,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2193,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000538197.7",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2193A>C",
"hgvs_p": "p.Arg731Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001177382.2",
"protein_coding": true,
"protein_id": "ENSP00000443985.1",
"strand": true,
"transcript": "ENST00000538197.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "R",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6786,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2103,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000382395.8",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2103A>C",
"hgvs_p": "p.Arg701Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371832.4",
"strand": true,
"transcript": "ENST00000382395.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507071.6",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2176+7269A>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424084.2",
"strand": true,
"transcript": "ENST00000507071.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 999,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6771,
"cdna_start": null,
"cds_end": null,
"cds_length": 3000,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382401.8",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2095+7269A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371838.4",
"strand": true,
"transcript": "ENST00000382401.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 996,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": null,
"cds_end": null,
"cds_length": 2991,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000345451.8",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2086+7269A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334058.4",
"strand": true,
"transcript": "ENST00000345451.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6988,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2112,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001177381.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2112A>C",
"hgvs_p": "p.Arg704Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001170852.1",
"strand": true,
"transcript": "NM_001177381.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6797,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2112,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000442003.6",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2112A>C",
"hgvs_p": "p.Arg704Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414270.2",
"strand": true,
"transcript": "ENST00000442003.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "R",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6979,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2103,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001177383.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2103A>C",
"hgvs_p": "p.Arg701Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001170854.1",
"strand": true,
"transcript": "NM_001177383.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 2395,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2202,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005248135.4",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2202A>C",
"hgvs_p": "p.Arg734Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248192.2",
"strand": true,
"transcript": "XM_005248135.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5246,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1392,
"cds_start": 480,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017007733.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.480A>C",
"hgvs_p": "p.Arg160Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863222.1",
"strand": true,
"transcript": "XM_017007733.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5247,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1392,
"cds_start": 480,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017007734.3",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.480A>C",
"hgvs_p": "p.Arg160Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863223.1",
"strand": true,
"transcript": "XM_017007734.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1026,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7045,
"cdna_start": null,
"cds_end": null,
"cds_length": 3081,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182485.3",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2176+7269A>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_872291.2",
"strand": true,
"transcript": "NM_182485.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 999,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6964,
"cdna_start": null,
"cds_end": null,
"cds_length": 3000,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001177384.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2095+7269A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001170855.1",
"strand": true,
"transcript": "NM_001177384.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 996,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6955,
"cdna_start": null,
"cds_end": null,
"cds_length": 2991,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182646.3",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2086+7269A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_872587.2",
"strand": true,
"transcript": "NM_182646.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1029,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7054,
"cdna_start": null,
"cds_end": null,
"cds_length": 3090,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011513777.4",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.2185+7269A>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512079.1",
"strand": true,
"transcript": "XM_011513777.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 304,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4746,
"cdna_start": null,
"cds_end": null,
"cds_length": 915,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449609.1",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.10+7269A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305565.1",
"strand": true,
"transcript": "XM_047449609.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 647,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502344.6",
"gene_hgnc_id": 40683,
"gene_symbol": "C1QTNF7-AS1",
"hgvs_c": "n.155-22599T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000502344.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513384.1",
"gene_hgnc_id": 40683,
"gene_symbol": "C1QTNF7-AS1",
"hgvs_c": "n.254-22599T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000513384.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 630,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_125911.1",
"gene_hgnc_id": 40683,
"gene_symbol": "C1QTNF7-AS1",
"hgvs_c": "n.155-22599T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_125911.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
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"phylop100way_prediction": "Uncertain_significance",
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"ref": "A",
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"splice_prediction_selected": "Benign",
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}
]
}