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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: 2-131528334-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=131528334&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC74A",
"hgnc_id": 25197,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001349042.2",
"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": 0.1626,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": null,
"cds_end": null,
"cds_length": 939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258306.3",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.250+114G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409856.8",
"protein_coding": true,
"protein_id": "NP_001245235.1",
"strand": true,
"transcript": "NM_001258306.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": null,
"cds_end": null,
"cds_length": 939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409856.8",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.250+114G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258306.3",
"protein_coding": true,
"protein_id": "ENSP00000387009.3",
"strand": true,
"transcript": "ENST00000409856.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1543,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000295171.10",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.250+114G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295171.6",
"strand": true,
"transcript": "ENST00000295171.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 272,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1347,
"cdna_start": null,
"cds_end": null,
"cds_length": 819,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467992.6",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.250+114G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444610.2",
"strand": true,
"transcript": "ENST00000467992.6",
"transcript_support_level": 1
},
{
"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": 1080,
"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": "ENST00000465939.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "n.546+114G>A",
"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": "ENST00000465939.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 512,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 394,
"cds_end": null,
"cds_length": 1539,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000944310.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614369.1",
"strand": true,
"transcript": "ENST00000944310.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 431,
"cds_end": null,
"cds_length": 1275,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000944308.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614367.1",
"strand": true,
"transcript": "ENST00000944308.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1614,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1263,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001349042.2",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335971.1",
"strand": true,
"transcript": "NM_001349042.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 420,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 438,
"cds_end": null,
"cds_length": 1263,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899934.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569993.1",
"strand": true,
"transcript": "ENST00000899934.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1128,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001258304.3",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245233.1",
"strand": true,
"transcript": "NM_001258304.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 468,
"cds_end": null,
"cds_length": 1077,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000944304.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614363.1",
"strand": true,
"transcript": "ENST00000944304.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1398,
"cdna_start": 419,
"cds_end": null,
"cds_length": 1077,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000944309.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614368.1",
"strand": true,
"transcript": "ENST00000944309.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 354,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1065,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001349043.2",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335972.1",
"strand": true,
"transcript": "NM_001349043.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 354,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 468,
"cds_end": null,
"cds_length": 1065,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899929.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569988.1",
"strand": true,
"transcript": "ENST00000899929.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 353,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1062,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000944306.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614365.1",
"strand": true,
"transcript": "ENST00000944306.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1363,
"cdna_start": 445,
"cds_end": null,
"cds_length": 1014,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912825.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582884.1",
"strand": true,
"transcript": "ENST00000912825.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 272,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1295,
"cdna_start": 447,
"cds_end": null,
"cds_length": 819,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001349044.2",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335973.1",
"strand": true,
"transcript": "NM_001349044.2",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1108,
"cdna_start": 397,
"cds_end": null,
"cds_length": 807,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912826.1",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582885.1",
"strand": true,
"transcript": "ENST00000912826.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1223,
"cdna_start": 447,
"cds_end": null,
"cds_length": 747,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001349045.2",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335974.1",
"strand": true,
"transcript": "NM_001349045.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1626,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1275,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017005234.3",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860723.1",
"strand": true,
"transcript": "XM_017005234.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "G",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1077,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017005236.2",
"gene_hgnc_id": 25197,
"gene_symbol": "CCDC74A",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860725.1",
"strand": true,
"transcript": "XM_017005236.2",
"transcript_support_level": null
},
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