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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: 1-33330119-CCG-TCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33330119&ref=CCG&alt=TCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PHC2",
"hgnc_id": 3183,
"hgvs_c": "c.2164_2166delCGGinsGGA",
"hgvs_p": "p.Arg722Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001385112.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000225313",
"hgnc_id": null,
"hgvs_c": "n.76-3129_76-3127delCCGinsTCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000827938.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"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": "G",
"aa_end": null,
"aa_length": 859,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385109.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2098_2100delCGGinsGGA",
"hgvs_p": "p.Arg700Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683057.1",
"protein_coding": true,
"protein_id": "NP_001372038.1",
"strand": false,
"transcript": "NM_001385109.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 859,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683057.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2098_2100delCGGinsGGA",
"hgvs_p": "p.Arg700Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385109.1",
"protein_coding": true,
"protein_id": "ENSP00000507877.1",
"strand": false,
"transcript": "ENST00000683057.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000257118.5",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2095_2097delCGGinsGGA",
"hgvs_p": "p.Arg699Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000257118.5",
"strand": false,
"transcript": "ENST00000257118.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431992.6",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2011_2013delCGGinsGGA",
"hgvs_p": "p.Arg671Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389436.2",
"strand": false,
"transcript": "ENST00000431992.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 831,
"cds_end": null,
"cds_length": 972,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373418.7",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.490_492delCGGinsGGA",
"hgvs_p": "p.Arg164Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362517.3",
"strand": false,
"transcript": "ENST00000373418.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4059,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2164,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385112.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2164_2166delCGGinsGGA",
"hgvs_p": "p.Arg722Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372041.1",
"strand": false,
"transcript": "NM_001385112.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": 2217,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2164,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706360.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2164_2166delCGGinsGGA",
"hgvs_p": "p.Arg722Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516348.1",
"strand": false,
"transcript": "ENST00000706360.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 859,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4050,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385119.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2098_2100delCGGinsGGA",
"hgvs_p": "p.Arg700Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372048.1",
"strand": false,
"transcript": "NM_001385119.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 859,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385120.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2098_2100delCGGinsGGA",
"hgvs_p": "p.Arg700Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372049.1",
"strand": false,
"transcript": "NM_001385120.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 859,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4522,
"cdna_start": 2803,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881545.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2098_2100delCGGinsGGA",
"hgvs_p": "p.Arg700Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551604.1",
"strand": false,
"transcript": "ENST00000881545.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198040.3",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2095_2097delCGGinsGGA",
"hgvs_p": "p.Arg699Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_932157.1",
"strand": false,
"transcript": "NM_198040.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 857,
"aa_ref": "R",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 2574,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385121.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2092_2094delCGGinsGGA",
"hgvs_p": "p.Arg698Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372050.1",
"strand": false,
"transcript": "NM_001385121.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3906,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330488.2",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2011_2013delCGGinsGGA",
"hgvs_p": "p.Arg671Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317417.1",
"strand": false,
"transcript": "NM_001330488.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385122.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2011_2013delCGGinsGGA",
"hgvs_p": "p.Arg671Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372051.1",
"strand": false,
"transcript": "NM_001385122.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4255,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373422.8",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.2011_2013delCGGinsGGA",
"hgvs_p": "p.Arg671Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362521.4",
"strand": false,
"transcript": "ENST00000373422.8",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385123.1",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.1372_1374delCGGinsGGA",
"hgvs_p": "p.Arg458Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372052.1",
"strand": false,
"transcript": "NM_001385123.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": 845,
"cds_end": null,
"cds_length": 972,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004427.4",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.490_492delCGGinsGGA",
"hgvs_p": "p.Arg164Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004418.2",
"strand": false,
"transcript": "NM_004427.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 92,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"cdna_start": 712,
"cds_end": null,
"cds_length": 279,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000493483.5",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "c.229_231delCGGinsGGA",
"hgvs_p": "p.Arg77Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509437.1",
"strand": false,
"transcript": "ENST00000493483.5",
"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": 1466,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000467894.5",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "n.*347_*349delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510267.1",
"strand": false,
"transcript": "ENST00000467894.5",
"transcript_support_level": 5
},
{
"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": 2548,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000485928.5",
"gene_hgnc_id": 3183,
"gene_symbol": "PHC2",
"hgvs_c": "n.*272_*274delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510096.1",
"strand": false,
"transcript": "ENST00000485928.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
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