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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: 2-130139613-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130139613&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130139613,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_207310.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Glu296Val",
"transcript": "NM_001258307.2",
"protein_id": "NP_001245236.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 314,
"cds_start": 887,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": "ENST00000409943.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258307.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Glu296Val",
"transcript": "ENST00000409943.8",
"protein_id": "ENSP00000386294.3",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 314,
"cds_start": 887,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": "NM_001258307.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409943.8"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1097A>T",
"hgvs_p": "p.Glu366Val",
"transcript": "ENST00000860854.1",
"protein_id": "ENSP00000530913.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 384,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860854.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1097A>T",
"hgvs_p": "p.Glu366Val",
"transcript": "ENST00000944366.1",
"protein_id": "ENSP00000614425.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 384,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944366.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1085A>T",
"hgvs_p": "p.Glu362Val",
"transcript": "NM_207310.4",
"protein_id": "NP_997193.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 380,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207310.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1085A>T",
"hgvs_p": "p.Glu362Val",
"transcript": "ENST00000310463.10",
"protein_id": "ENSP00000308873.6",
"transcript_support_level": 2,
"aa_start": 362,
"aa_end": null,
"aa_length": 380,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310463.10"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1079A>T",
"hgvs_p": "p.Glu360Val",
"transcript": "ENST00000944367.1",
"protein_id": "ENSP00000614426.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 378,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944367.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1073A>T",
"hgvs_p": "p.Glu358Val",
"transcript": "ENST00000860856.1",
"protein_id": "ENSP00000530915.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 376,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860856.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1025A>T",
"hgvs_p": "p.Glu342Val",
"transcript": "ENST00000860857.1",
"protein_id": "ENSP00000530916.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 360,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860857.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1013A>T",
"hgvs_p": "p.Glu338Val",
"transcript": "ENST00000860853.1",
"protein_id": "ENSP00000530912.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 356,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860853.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.962A>T",
"hgvs_p": "p.Glu321Val",
"transcript": "ENST00000860855.1",
"protein_id": "ENSP00000530914.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 339,
"cds_start": 962,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860855.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.899A>T",
"hgvs_p": "p.Glu300Val",
"transcript": "ENST00000944368.1",
"protein_id": "ENSP00000614427.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 318,
"cds_start": 899,
"cds_end": null,
"cds_length": 957,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944368.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.836A>T",
"hgvs_p": "p.Glu279Val",
"transcript": "ENST00000860852.1",
"protein_id": "ENSP00000530911.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 297,
"cds_start": 836,
"cds_end": null,
"cds_length": 894,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860852.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1391A>T",
"hgvs_p": "p.Glu464Val",
"transcript": "XM_011512142.3",
"protein_id": "XP_011510444.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 482,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512142.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1223A>T",
"hgvs_p": "p.Glu408Val",
"transcript": "XM_006712833.3",
"protein_id": "XP_006712896.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 426,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712833.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1211A>T",
"hgvs_p": "p.Glu404Val",
"transcript": "XM_005263840.3",
"protein_id": "XP_005263897.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 422,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263840.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1097A>T",
"hgvs_p": "p.Glu366Val",
"transcript": "XM_006712834.4",
"protein_id": "XP_006712897.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 384,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712834.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1025A>T",
"hgvs_p": "p.Glu342Val",
"transcript": "XM_006712835.3",
"protein_id": "XP_006712898.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 360,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712835.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1013A>T",
"hgvs_p": "p.Glu338Val",
"transcript": "XM_005263842.3",
"protein_id": "XP_005263899.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 356,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263842.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.899A>T",
"hgvs_p": "p.Glu300Val",
"transcript": "XM_006712837.3",
"protein_id": "XP_006712900.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 318,
"cds_start": 899,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712837.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.827A>T",
"hgvs_p": "p.Glu276Val",
"transcript": "XM_047446278.1",
"protein_id": "XP_047302234.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 294,
"cds_start": 827,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446278.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.827A>T",
"hgvs_p": "p.Glu276Val",
"transcript": "XM_047446279.1",
"protein_id": "XP_047302235.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 294,
"cds_start": 827,
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"cds_length": 885,
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{
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],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_207310.4",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427638.1",
"gene_symbol": "MED15P9",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}