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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: 4-15008380-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15008380&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CPEB2",
"hgnc_id": 21745,
"hgvs_c": "c.1987C>G",
"hgvs_p": "p.Leu663Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001177382.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C1QTNF7-AS1",
"hgnc_id": 40683,
"hgvs_c": "n.315-1810G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000502344.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1555,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2043021321296692,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "L",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7069,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 3105,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177382.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1987C>G",
"hgvs_p": "p.Leu663Val",
"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": "V",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "L",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7069,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 3105,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000538197.7",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1987C>G",
"hgvs_p": "p.Leu663Val",
"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": "V",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "L",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 3081,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000507071.6",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1987C>G",
"hgvs_p": "p.Leu663Val",
"intron_rank": null,
"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": 1004,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6786,
"cdna_start": null,
"cds_end": null,
"cds_length": 3015,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382395.8",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1944+794C>G",
"hgvs_p": null,
"intron_rank": 2,
"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": 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.1953+785C>G",
"hgvs_p": null,
"intron_rank": 2,
"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.1944+794C>G",
"hgvs_p": null,
"intron_rank": 2,
"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": "V",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "L",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7045,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 3081,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_182485.3",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1987C>G",
"hgvs_p": "p.Leu663Val",
"intron_rank": null,
"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": "V",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "L",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 3114,
"cds_start": 1996,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005248135.4",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1996C>G",
"hgvs_p": "p.Leu666Val",
"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": "V",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "L",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7054,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 3090,
"cds_start": 1996,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011513777.4",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1996C>G",
"hgvs_p": "p.Leu666Val",
"intron_rank": null,
"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": "V",
"aa_end": null,
"aa_length": 726,
"aa_ref": "L",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1996,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011513778.4",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1996C>G",
"hgvs_p": "p.Leu666Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512080.1",
"strand": true,
"transcript": "XM_011513778.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 463,
"aa_ref": "L",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5246,
"cdna_start": 357,
"cds_end": null,
"cds_length": 1392,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017007733.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Leu92Val",
"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": "V",
"aa_end": null,
"aa_length": 463,
"aa_ref": "L",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5247,
"cdna_start": 358,
"cds_end": null,
"cds_length": 1392,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017007734.3",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Leu92Val",
"intron_rank": null,
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"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,
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"aa_length": 1007,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6988,
"cdna_start": null,
"cds_end": null,
"cds_length": 3024,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001177381.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1953+785C>G",
"hgvs_p": null,
"intron_rank": 2,
"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": null,
"aa_end": null,
"aa_length": 1007,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6797,
"cdna_start": null,
"cds_end": null,
"cds_length": 3024,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000442003.6",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1953+785C>G",
"hgvs_p": null,
"intron_rank": 2,
"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": null,
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"aa_length": 1004,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6979,
"cdna_start": null,
"cds_end": null,
"cds_length": 3015,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001177383.2",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1944+794C>G",
"hgvs_p": null,
"intron_rank": 2,
"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": 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.1953+785C>G",
"hgvs_p": null,
"intron_rank": 2,
"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,
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"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.1944+794C>G",
"hgvs_p": null,
"intron_rank": 2,
"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,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3356,
"cdna_start": null,
"cds_end": null,
"cds_length": 2001,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011513779.3",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "c.1944+794C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512081.1",
"strand": true,
"transcript": "XM_011513779.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"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.315-1810G>C",
"hgvs_p": null,
"intron_rank": 4,
"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": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 467,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503926.1",
"gene_hgnc_id": 21745,
"gene_symbol": "CPEB2",
"hgvs_c": "n.220+794C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000503926.1",
"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": 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",
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