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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: 6-33304170-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33304170&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33304170,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_172208.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "NM_003190.5",
"protein_id": "NP_003181.3",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 448,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434618.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003190.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000434618.7",
"protein_id": "ENSP00000395701.2",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 448,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003190.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434618.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000426633.6",
"protein_id": "ENSP00000404833.2",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 504,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426633.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "ENST00000489157.6",
"protein_id": "ENSP00000419659.1",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 361,
"cds_start": 997,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489157.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1695G>A",
"hgvs_p": null,
"transcript": "ENST00000480730.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480730.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "NM_172208.3",
"protein_id": "NP_757345.2",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 504,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172208.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000699656.1",
"protein_id": "ENSP00000514505.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 490,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699656.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"transcript": "ENST00000475304.5",
"protein_id": "ENSP00000417949.1",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 466,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475304.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "NM_001410875.1",
"protein_id": "NP_001397804.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 459,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410875.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000699657.1",
"protein_id": "ENSP00000514506.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 459,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699657.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Ala342Thr",
"transcript": "ENST00000910118.1",
"protein_id": "ENSP00000580177.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 370,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910118.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "NM_172209.3",
"protein_id": "NP_757346.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 361,
"cds_start": 997,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172209.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Ala328Thr",
"transcript": "ENST00000699650.1",
"protein_id": "ENSP00000514501.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 356,
"cds_start": 982,
"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": "ENST00000699650.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Ala306Thr",
"transcript": "ENST00000699652.1",
"protein_id": "ENSP00000514503.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 334,
"cds_start": 916,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699652.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Ala287Thr",
"transcript": "ENST00000925535.1",
"protein_id": "ENSP00000595596.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 315,
"cds_start": 859,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925535.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Ala236Thr",
"transcript": "ENST00000699649.1",
"protein_id": "ENSP00000514500.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 264,
"cds_start": 706,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699649.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Ala236Thr",
"transcript": "ENST00000699651.1",
"protein_id": "ENSP00000514502.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 264,
"cds_start": 706,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699651.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Ala219Thr",
"transcript": "ENST00000699654.1",
"protein_id": "ENSP00000514504.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 247,
"cds_start": 655,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699654.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "XM_047419271.1",
"protein_id": "XP_047275227.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 372,
"cds_start": 997,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419271.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.869-181G>A",
"hgvs_p": null,
"transcript": "ENST00000699648.1",
"protein_id": "ENSP00000514499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.635-181G>A",
"hgvs_p": null,
"transcript": "ENST00000948440.1",
"protein_id": "ENSP00000618499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.1210+127G>A",
"hgvs_p": null,
"transcript": "XM_011514828.4",
"protein_id": "XP_011513130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": null,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514828.4"
},
{
"aa_ref": null,
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"canonical": false,
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MHC class I deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}