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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: 2-130140237-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130140237&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130140237,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_207310.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Arg207Thr",
"transcript": "NM_001258307.2",
"protein_id": "NP_001245236.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 314,
"cds_start": 620,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409943.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258307.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Arg207Thr",
"transcript": "ENST00000409943.8",
"protein_id": "ENSP00000386294.3",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 314,
"cds_start": 620,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258307.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409943.8"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Arg277Thr",
"transcript": "ENST00000860854.1",
"protein_id": "ENSP00000530913.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 384,
"cds_start": 830,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860854.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Arg277Thr",
"transcript": "ENST00000944366.1",
"protein_id": "ENSP00000614425.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 384,
"cds_start": 830,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944366.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Thr",
"transcript": "NM_207310.4",
"protein_id": "NP_997193.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 380,
"cds_start": 818,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207310.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Thr",
"transcript": "ENST00000310463.10",
"protein_id": "ENSP00000308873.6",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 380,
"cds_start": 818,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310463.10"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Arg273Thr",
"transcript": "ENST00000944367.1",
"protein_id": "ENSP00000614426.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 378,
"cds_start": 818,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944367.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Arg269Thr",
"transcript": "ENST00000860856.1",
"protein_id": "ENSP00000530915.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 376,
"cds_start": 806,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860856.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.758G>C",
"hgvs_p": "p.Arg253Thr",
"transcript": "ENST00000860857.1",
"protein_id": "ENSP00000530916.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 360,
"cds_start": 758,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860857.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Thr",
"transcript": "ENST00000860853.1",
"protein_id": "ENSP00000530912.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 356,
"cds_start": 746,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860853.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.695G>C",
"hgvs_p": "p.Arg232Thr",
"transcript": "ENST00000860855.1",
"protein_id": "ENSP00000530914.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 339,
"cds_start": 695,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860855.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.632G>C",
"hgvs_p": "p.Arg211Thr",
"transcript": "ENST00000944368.1",
"protein_id": "ENSP00000614427.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 318,
"cds_start": 632,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944368.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Arg190Thr",
"transcript": "ENST00000860852.1",
"protein_id": "ENSP00000530911.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 297,
"cds_start": 569,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860852.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1124G>C",
"hgvs_p": "p.Arg375Thr",
"transcript": "XM_011512142.3",
"protein_id": "XP_011510444.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 482,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512142.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.956G>C",
"hgvs_p": "p.Arg319Thr",
"transcript": "XM_006712833.3",
"protein_id": "XP_006712896.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 426,
"cds_start": 956,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712833.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.944G>C",
"hgvs_p": "p.Arg315Thr",
"transcript": "XM_005263840.3",
"protein_id": "XP_005263897.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 422,
"cds_start": 944,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263840.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Arg277Thr",
"transcript": "XM_006712834.4",
"protein_id": "XP_006712897.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 384,
"cds_start": 830,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712834.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.758G>C",
"hgvs_p": "p.Arg253Thr",
"transcript": "XM_006712835.3",
"protein_id": "XP_006712898.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 360,
"cds_start": 758,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712835.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Thr",
"transcript": "XM_005263842.3",
"protein_id": "XP_005263899.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 356,
"cds_start": 746,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263842.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.632G>C",
"hgvs_p": "p.Arg211Thr",
"transcript": "XM_006712837.3",
"protein_id": "XP_006712900.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 318,
"cds_start": 632,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712837.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.560G>C",
"hgvs_p": "p.Arg187Thr",
"transcript": "XM_047446278.1",
"protein_id": "XP_047302234.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 294,
"cds_start": 560,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446278.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.560G>C",
"hgvs_p": "p.Arg187Thr",
"transcript": "XM_047446279.1",
"protein_id": "XP_047302235.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 294,
"cds_start": 560,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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"verdict": "Uncertain_significance",
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"custom_annotations": null
}
],
"message": null
}