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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: 4-15580046-CGT-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15580046&ref=CGT&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CC2D2A",
"hgnc_id": 29253,
"hgvs_c": "c.3850_3852delCGTinsTCG",
"hgvs_p": "p.Arg1284Ser",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001080522.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 4044,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3850,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378615.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3850_3852delCGTinsTCG",
"hgvs_p": "p.Arg1284Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424120.6",
"protein_coding": true,
"protein_id": "NP_001365544.1",
"strand": true,
"transcript": "NM_001378615.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1284,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 4044,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3850,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424120.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3850_3852delCGTinsTCG",
"hgvs_p": "p.Arg1284Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378615.1",
"protein_coding": true,
"protein_id": "ENSP00000403465.1",
"strand": true,
"transcript": "ENST00000424120.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 4089,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3850,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503292.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3850_3852delCGTinsTCG",
"hgvs_p": "p.Arg1284Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421809.1",
"strand": true,
"transcript": "ENST00000503292.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000634028.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.3703_3705delCGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000488669.2",
"strand": true,
"transcript": "ENST00000634028.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1632,
"aa_ref": "R",
"aa_start": 1296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 3904,
"cds_end": null,
"cds_length": 4899,
"cds_start": 3886,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389652.11",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3886_3888delCGTinsTCG",
"hgvs_p": "p.Arg1296Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374303.8",
"strand": true,
"transcript": "ENST00000389652.11",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "R",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5193,
"cdna_start": 4060,
"cds_end": null,
"cds_length": 4884,
"cds_start": 3871,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951218.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3871_3873delCGTinsTCG",
"hgvs_p": "p.Arg1291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621277.1",
"strand": true,
"transcript": "ENST00000951218.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 4095,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3850,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080522.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3850_3852delCGTinsTCG",
"hgvs_p": "p.Arg1284Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073991.2",
"strand": true,
"transcript": "NM_001080522.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": 4021,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3850,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860661.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3850_3852delCGTinsTCG",
"hgvs_p": "p.Arg1284Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530720.1",
"strand": true,
"transcript": "ENST00000860661.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "R",
"aa_start": 1281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": 4020,
"cds_end": null,
"cds_length": 4854,
"cds_start": 3841,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951219.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3841_3843delCGTinsTCG",
"hgvs_p": "p.Arg1281Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621278.1",
"strand": true,
"transcript": "ENST00000951219.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1573,
"aa_ref": "R",
"aa_start": 1237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": 3908,
"cds_end": null,
"cds_length": 4722,
"cds_start": 3709,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860662.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3709_3711delCGTinsTCG",
"hgvs_p": "p.Arg1237Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530721.1",
"strand": true,
"transcript": "ENST00000860662.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "R",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4984,
"cdna_start": 3844,
"cds_end": null,
"cds_length": 4716,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378617.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3703_3705delCGTinsTCG",
"hgvs_p": "p.Arg1235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365546.1",
"strand": true,
"transcript": "NM_001378617.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "R",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": 3852,
"cds_end": null,
"cds_length": 4716,
"cds_start": 3703,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000506643.5",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3703_3705delCGTinsTCG",
"hgvs_p": "p.Arg1235Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422931.2",
"strand": true,
"transcript": "ENST00000506643.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1512,
"aa_ref": "R",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 3675,
"cds_end": null,
"cds_length": 4539,
"cds_start": 3526,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674945.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3526_3528delCGTinsTCG",
"hgvs_p": "p.Arg1176Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502333.1",
"strand": true,
"transcript": "ENST00000674945.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 322,
"aa_ref": "R",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": 79,
"cds_end": null,
"cds_length": 969,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000514039.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.79_81delCGTinsTCG",
"hgvs_p": "p.Arg27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488534.2",
"strand": true,
"transcript": "ENST00000514039.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 36,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000650860.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.*1347_*1349delCGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498775.1",
"strand": true,
"transcript": "ENST00000650860.2",
"transcript_support_level": null
},
{
"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": 4929,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000675619.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.4682_4684delCGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675619.1",
"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": 2447,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675768.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.1070_1072delCGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675768.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000676337.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.*856_*858delCGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501728.1",
"strand": true,
"transcript": "ENST00000676337.1",
"transcript_support_level": null
},
{
"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": 6514,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000680586.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.4509_4511delCGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000680586.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 36,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000650860.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.*1347_*1349delCGTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498775.1",
"strand": true,
"transcript": "ENST00000650860.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
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]
}