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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: 6-33305011-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33305011&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33305011,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000434618.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "NM_003190.5",
"protein_id": "NP_003181.3",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 448,
"cds_start": 845,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": "ENST00000434618.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "ENST00000434618.7",
"protein_id": "ENSP00000395701.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 448,
"cds_start": 845,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": "NM_003190.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "ENST00000426633.6",
"protein_id": "ENSP00000404833.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 504,
"cds_start": 845,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.584delT",
"hgvs_p": "p.Val195fs",
"transcript": "ENST00000489157.6",
"protein_id": "ENSP00000419659.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 361,
"cds_start": 584,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.845delT",
"hgvs_p": null,
"transcript": "ENST00000437116.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.853delT",
"hgvs_p": null,
"transcript": "ENST00000480730.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "NM_172208.3",
"protein_id": "NP_757345.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 504,
"cds_start": 845,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "ENST00000699656.1",
"protein_id": "ENSP00000514505.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 490,
"cds_start": 845,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.899delT",
"hgvs_p": "p.Val300fs",
"transcript": "ENST00000475304.5",
"protein_id": "ENSP00000417949.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 466,
"cds_start": 899,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "NM_001410875.1",
"protein_id": "NP_001397804.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 459,
"cds_start": 845,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "ENST00000699657.1",
"protein_id": "ENSP00000514506.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 459,
"cds_start": 845,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.584delT",
"hgvs_p": "p.Val195fs",
"transcript": "NM_172209.3",
"protein_id": "NP_757346.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 361,
"cds_start": 584,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.569delT",
"hgvs_p": "p.Val190fs",
"transcript": "ENST00000699650.1",
"protein_id": "ENSP00000514501.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 356,
"cds_start": 569,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "ENST00000699652.1",
"protein_id": "ENSP00000514503.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 334,
"cds_start": 845,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "ENST00000699648.1",
"protein_id": "ENSP00000514499.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 304,
"cds_start": 845,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.293delT",
"hgvs_p": "p.Val98fs",
"transcript": "ENST00000699649.1",
"protein_id": "ENSP00000514500.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 264,
"cds_start": 293,
"cds_end": null,
"cds_length": 795,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.293delT",
"hgvs_p": "p.Val98fs",
"transcript": "ENST00000699651.1",
"protein_id": "ENSP00000514502.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 264,
"cds_start": 293,
"cds_end": null,
"cds_length": 795,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.584delT",
"hgvs_p": "p.Val195fs",
"transcript": "ENST00000699654.1",
"protein_id": "ENSP00000514504.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 247,
"cds_start": 584,
"cds_end": null,
"cds_length": 744,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.845delT",
"hgvs_p": "p.Val282fs",
"transcript": "XM_011514828.4",
"protein_id": "XP_011513130.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 429,
"cds_start": 845,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.584delT",
"hgvs_p": "p.Val195fs",
"transcript": "XM_047419271.1",
"protein_id": "XP_047275227.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 372,
"cds_start": 584,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "c.584delT",
"hgvs_p": "p.Val195fs",
"transcript": "XM_047419272.1",
"protein_id": "XP_047275228.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 342,
"cds_start": 584,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.674delT",
"hgvs_p": null,
"transcript": "ENST00000467025.2",
"protein_id": "ENSP00000417523.2",
"transcript_support_level": 3,
"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": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAPBP",
"gene_hgnc_id": 11566,
"hgvs_c": "n.1304delT",
"hgvs_p": null,
"transcript": "ENST00000699647.1",
"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,
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{
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MHC class I deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}