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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: 2-130139568-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130139568&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC74B",
"hgnc_id": 25267,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_207310.4",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MED15P9",
"hgnc_id": null,
"hgvs_c": "n.*151C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "ENST00000427638.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 68,
"alphamissense_prediction": null,
"alphamissense_score": 0.1531,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2655108571052551,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 314,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 945,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001258307.2",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409943.8",
"protein_coding": true,
"protein_id": "NP_001245236.1",
"strand": false,
"transcript": "NM_001258307.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 314,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 945,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409943.8",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258307.2",
"protein_coding": true,
"protein_id": "ENSP00000386294.3",
"strand": false,
"transcript": "ENST00000409943.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860854.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530913.1",
"strand": false,
"transcript": "ENST00000860854.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944366.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614425.1",
"strand": false,
"transcript": "ENST00000944366.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_207310.4",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997193.1",
"strand": false,
"transcript": "NM_207310.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000310463.10",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308873.6",
"strand": false,
"transcript": "ENST00000310463.10",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 378,
"aa_ref": "R",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1137,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944367.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Arg375His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614426.1",
"strand": false,
"transcript": "ENST00000944367.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1131,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860856.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530915.1",
"strand": false,
"transcript": "ENST00000860856.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1083,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860857.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1070G>A",
"hgvs_p": "p.Arg357His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530916.1",
"strand": false,
"transcript": "ENST00000860857.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1071,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860853.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530912.1",
"strand": false,
"transcript": "ENST00000860853.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1020,
"cds_start": 1007,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000860855.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530914.1",
"strand": false,
"transcript": "ENST00000860855.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1299,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 957,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944368.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614427.1",
"strand": false,
"transcript": "ENST00000944368.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 964,
"cds_end": null,
"cds_length": 894,
"cds_start": 881,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000860852.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530911.1",
"strand": false,
"transcript": "ENST00000860852.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011512142.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1436G>A",
"hgvs_p": "p.Arg479His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510444.1",
"strand": false,
"transcript": "XM_011512142.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1281,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006712833.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712896.1",
"strand": false,
"transcript": "XM_006712833.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005263840.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263897.1",
"strand": false,
"transcript": "XM_005263840.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 384,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006712834.4",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712897.1",
"strand": false,
"transcript": "XM_006712834.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1083,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006712835.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1070G>A",
"hgvs_p": "p.Arg357His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712898.1",
"strand": false,
"transcript": "XM_006712835.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1455,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1071,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005263842.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263899.1",
"strand": false,
"transcript": "XM_005263842.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1341,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 957,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006712837.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712900.1",
"strand": false,
"transcript": "XM_006712837.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 294,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
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