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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: 2-130139944-GTC-ATT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130139944&ref=GTC&alt=ATT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "CCDC74B",
"hgnc_id": 25267,
"hgvs_c": "c.952_954delGACinsAAT",
"hgvs_p": "p.Asp318Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_207310.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "N",
"aa_end": null,
"aa_length": 314,
"aa_ref": "D",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 872,
"cds_end": null,
"cds_length": 945,
"cds_start": 754,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258307.2",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.754_756delGACinsAAT",
"hgvs_p": "p.Asp252Asn",
"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": "N",
"aa_end": null,
"aa_length": 314,
"aa_ref": "D",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 872,
"cds_end": null,
"cds_length": 945,
"cds_start": 754,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409943.8",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.754_756delGACinsAAT",
"hgvs_p": "p.Asp252Asn",
"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": "N",
"aa_end": null,
"aa_length": 384,
"aa_ref": "D",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1155,
"cds_start": 964,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860854.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.964_966delGACinsAAT",
"hgvs_p": "p.Asp322Asn",
"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": "N",
"aa_end": null,
"aa_length": 384,
"aa_ref": "D",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1155,
"cds_start": 964,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944366.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.964_966delGACinsAAT",
"hgvs_p": "p.Asp322Asn",
"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": "N",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1143,
"cds_start": 952,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_207310.4",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.952_954delGACinsAAT",
"hgvs_p": "p.Asp318Asn",
"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": "N",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1143,
"cds_start": 952,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000310463.10",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.952_954delGACinsAAT",
"hgvs_p": "p.Asp318Asn",
"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": "N",
"aa_end": null,
"aa_length": 378,
"aa_ref": "D",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1137,
"cds_start": 946,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944367.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.946_948delGACinsAAT",
"hgvs_p": "p.Asp316Asn",
"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": "N",
"aa_end": null,
"aa_length": 376,
"aa_ref": "D",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1131,
"cds_start": 940,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860856.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.940_942delGACinsAAT",
"hgvs_p": "p.Asp314Asn",
"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": "N",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1083,
"cds_start": 892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860857.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.892_894delGACinsAAT",
"hgvs_p": "p.Asp298Asn",
"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": "N",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1071,
"cds_start": 880,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860853.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.880_882delGACinsAAT",
"hgvs_p": "p.Asp294Asn",
"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": "N",
"aa_end": null,
"aa_length": 339,
"aa_ref": "D",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1020,
"cds_start": 829,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860855.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.829_831delGACinsAAT",
"hgvs_p": "p.Asp277Asn",
"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": "N",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1299,
"cdna_start": 843,
"cds_end": null,
"cds_length": 957,
"cds_start": 766,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944368.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.766_768delGACinsAAT",
"hgvs_p": "p.Asp256Asn",
"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": "N",
"aa_end": null,
"aa_length": 297,
"aa_ref": "D",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 788,
"cds_end": null,
"cds_length": 894,
"cds_start": 703,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860852.1",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.703_705delGACinsAAT",
"hgvs_p": "p.Asp235Asn",
"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": "GI",
"aa_end": null,
"aa_length": 274,
"aa_ref": "GT",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": 898,
"cds_end": null,
"cds_length": 825,
"cds_start": 759,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392984.7",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.759_761delGACinsAAT",
"hgvs_p": "p.Thr254Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376710.4",
"strand": false,
"transcript": "ENST00000392984.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 482,
"aa_ref": "D",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1258,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512142.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1258_1260delGACinsAAT",
"hgvs_p": "p.Asp420Asn",
"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": "N",
"aa_end": null,
"aa_length": 426,
"aa_ref": "D",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1281,
"cds_start": 1090,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006712833.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1090_1092delGACinsAAT",
"hgvs_p": "p.Asp364Asn",
"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": "N",
"aa_end": null,
"aa_length": 422,
"aa_ref": "D",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1078,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005263840.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.1078_1080delGACinsAAT",
"hgvs_p": "p.Asp360Asn",
"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": "N",
"aa_end": null,
"aa_length": 384,
"aa_ref": "D",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1155,
"cds_start": 964,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006712834.4",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.964_966delGACinsAAT",
"hgvs_p": "p.Asp322Asn",
"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": "N",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1083,
"cds_start": 892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006712835.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.892_894delGACinsAAT",
"hgvs_p": "p.Asp298Asn",
"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": "N",
"aa_end": null,
"aa_length": 356,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1455,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1071,
"cds_start": 880,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005263842.3",
"gene_hgnc_id": 25267,
"gene_symbol": "CCDC74B",
"hgvs_c": "c.880_882delGACinsAAT",
"hgvs_p": "p.Asp294Asn",
"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
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