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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: 12-109596480-TTGAC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109596480&ref=TTGAC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109596480,
"ref": "TTGAC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000228510.8",
"consequences": [
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1097_1100delACTG",
"hgvs_p": "p.Asp366fs",
"transcript": "NM_000431.4",
"protein_id": "NP_000422.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 396,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "ENST00000228510.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1097_1100delACTG",
"hgvs_p": "p.Asp366fs",
"transcript": "ENST00000228510.8",
"protein_id": "ENSP00000228510.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 396,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "NM_000431.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1172_1175delACTG",
"hgvs_p": "p.Asp391fs",
"transcript": "NM_001414512.1",
"protein_id": "NP_001401441.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 421,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1097_1100delACTG",
"hgvs_p": "p.Asp366fs",
"transcript": "NM_001114185.3",
"protein_id": "NP_001107657.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 396,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1097_1100delACTG",
"hgvs_p": "p.Asp366fs",
"transcript": "NM_001414511.1",
"protein_id": "NP_001401440.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 396,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1097_1100delACTG",
"hgvs_p": "p.Asp366fs",
"transcript": "ENST00000546277.6",
"protein_id": "ENSP00000438153.2",
"transcript_support_level": 5,
"aa_start": 366,
"aa_end": null,
"aa_length": 396,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.944_947delACTG",
"hgvs_p": "p.Asp315fs",
"transcript": "ENST00000636996.1",
"protein_id": "ENSP00000490869.1",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 345,
"cds_start": 944,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.941_944delACTG",
"hgvs_p": "p.Asp314fs",
"transcript": "NM_001301182.2",
"protein_id": "NP_001288111.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 344,
"cds_start": 941,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.941_944delACTG",
"hgvs_p": "p.Asp314fs",
"transcript": "ENST00000392727.7",
"protein_id": "ENSP00000376487.3",
"transcript_support_level": 2,
"aa_start": 314,
"aa_end": null,
"aa_length": 344,
"cds_start": 941,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.515_518delACTG",
"hgvs_p": "p.Asp172fs",
"transcript": "NM_001414515.1",
"protein_id": "NP_001401444.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 202,
"cds_start": 515,
"cds_end": null,
"cds_length": 609,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.254_257delACTG",
"hgvs_p": "p.Asp85fs",
"transcript": "ENST00000539696.6",
"protein_id": "ENSP00000439134.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 115,
"cds_start": 254,
"cds_end": null,
"cds_length": 348,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1397_1400delACTG",
"hgvs_p": "p.Asp466fs",
"transcript": "XM_047428873.1",
"protein_id": "XP_047284829.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 496,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1097_1100delACTG",
"hgvs_p": "p.Asp366fs",
"transcript": "XM_017019314.2",
"protein_id": "XP_016874803.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 396,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.941_944delACTG",
"hgvs_p": "p.Asp314fs",
"transcript": "XM_017019313.3",
"protein_id": "XP_016874802.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 344,
"cds_start": 941,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*544_*547delACTG",
"hgvs_p": null,
"transcript": "ENST00000447878.6",
"protein_id": "ENSP00000415555.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*770_*773delACTG",
"hgvs_p": null,
"transcript": "ENST00000537237.5",
"protein_id": "ENSP00000445382.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.3330_3333delACTG",
"hgvs_p": null,
"transcript": "ENST00000540353.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.736_739delACTG",
"hgvs_p": null,
"transcript": "ENST00000636529.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*861_*864delACTG",
"hgvs_p": null,
"transcript": "ENST00000697195.1",
"protein_id": "ENSP00000513181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*270_*273delACTG",
"hgvs_p": null,
"transcript": "ENST00000697196.1",
"protein_id": "ENSP00000513182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.3126_3129delACTG",
"hgvs_p": null,
"transcript": "ENST00000697197.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.1481_1484delACTG",
"hgvs_p": null,
"transcript": "ENST00000697198.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.1309_1312delACTG",
"hgvs_p": null,
"transcript": "NR_182758.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_score": 7.403,
"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Likely_pathogenic",
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"effects": [
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],
"clinvar_disease": "Hyperimmunoglobulin D with periodic fever",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Hyperimmunoglobulin D with periodic fever",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}