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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: 5-160253614-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=160253614&ref=G&alt=T&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": "CCNJL",
"hgnc_id": 25876,
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Arg358Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_024565.8",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "5",
"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": 387,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5709,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1164,
"cds_start": 928,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001308173.3",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Arg310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257536.13",
"protein_coding": true,
"protein_id": "NP_001295102.1",
"strand": false,
"transcript": "NM_001308173.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 387,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5709,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1164,
"cds_start": 928,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000257536.13",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Arg310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001308173.3",
"protein_coding": true,
"protein_id": "ENSP00000257536.7",
"strand": false,
"transcript": "ENST00000257536.13",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1072,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000393977.7",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Arg358Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377547.3",
"strand": false,
"transcript": "ENST00000393977.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5853,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1072,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024565.8",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Arg358Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078841.3",
"strand": false,
"transcript": "NM_024565.8",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1006,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870722.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.1006C>A",
"hgvs_p": "p.Arg336Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540781.1",
"strand": false,
"transcript": "ENST00000870722.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 401,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1206,
"cds_start": 970,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000917493.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Arg324Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587552.1",
"strand": false,
"transcript": "ENST00000917493.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 387,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1164,
"cds_start": 928,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000644313.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Arg310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493837.1",
"strand": false,
"transcript": "ENST00000644313.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 387,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1164,
"cds_start": 928,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870724.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Arg310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540783.1",
"strand": false,
"transcript": "ENST00000870724.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 865,
"cds_end": null,
"cds_length": 861,
"cds_start": 625,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870723.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.625C>A",
"hgvs_p": "p.Arg209Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540782.1",
"strand": false,
"transcript": "ENST00000870723.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 861,
"cds_start": 625,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917494.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.625C>A",
"hgvs_p": "p.Arg209Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587553.1",
"strand": false,
"transcript": "ENST00000917494.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 432,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6332,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1063,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006714917.5",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Arg355Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714980.1",
"strand": false,
"transcript": "XM_006714917.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6176,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1155,
"cds_start": 919,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047417702.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.919C>A",
"hgvs_p": "p.Arg307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273658.1",
"strand": false,
"transcript": "XM_047417702.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5568,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1098,
"cds_start": 862,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011534646.4",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.862C>A",
"hgvs_p": "p.Arg288Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532948.1",
"strand": false,
"transcript": "XM_011534646.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5356,
"cdna_start": 825,
"cds_end": null,
"cds_length": 990,
"cds_start": 754,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011534647.4",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.754C>A",
"hgvs_p": "p.Arg252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532949.1",
"strand": false,
"transcript": "XM_011534647.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5406,
"cdna_start": 875,
"cds_end": null,
"cds_length": 861,
"cds_start": 625,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017009847.2",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.625C>A",
"hgvs_p": "p.Arg209Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865336.2",
"strand": false,
"transcript": "XM_017009847.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 121,
"aa_ref": "R",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5261,
"cdna_start": 730,
"cds_end": null,
"cds_length": 366,
"cds_start": 130,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047417704.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "c.130C>A",
"hgvs_p": "p.Arg44Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273660.1",
"strand": false,
"transcript": "XM_047417704.1",
"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": 3442,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000377503.6",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "n.1481C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000377503.6",
"transcript_support_level": 2
},
{
"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": 3169,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643539.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "n.*680C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496436.1",
"strand": false,
"transcript": "ENST00000643539.1",
"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": 3560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643836.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "n.*1206C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496026.1",
"strand": false,
"transcript": "ENST00000643836.1",
"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": 7376,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644926.1",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "n.*2212C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496735.1",
"strand": false,
"transcript": "ENST00000644926.1",
"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": 5909,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_131769.2",
"gene_hgnc_id": 25876,
"gene_symbol": "CCNJL",
"hgvs_c": "n.1401C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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