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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: 5-150396821-GAGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150396821&ref=GAGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150396821,
"ref": "GAGA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000643257.2",
"consequences": [
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4332_4334delGAA",
"hgvs_p": "p.Lys1445del",
"transcript": "NM_001371623.1",
"protein_id": "NP_001358552.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1489,
"cds_start": 4332,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 4382,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": "ENST00000643257.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4332_4334delGAA",
"hgvs_p": "p.Lys1445del",
"transcript": "ENST00000643257.2",
"protein_id": "ENSP00000493815.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1489,
"cds_start": 4332,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 4382,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": "NM_001371623.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4329_4331delGAA",
"hgvs_p": "p.Lys1444del",
"transcript": "ENST00000504761.6",
"protein_id": "ENSP00000421655.2",
"transcript_support_level": 1,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4329,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4329,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4098_4100delGAA",
"hgvs_p": "p.Lys1367del",
"transcript": "ENST00000323668.11",
"protein_id": "ENSP00000325223.6",
"transcript_support_level": 1,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4098,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4173,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4329_4331delGAA",
"hgvs_p": "p.Lys1444del",
"transcript": "NM_001135243.2",
"protein_id": "NP_001128715.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4329,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4379,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4329_4331delGAA",
"hgvs_p": "p.Lys1444del",
"transcript": "ENST00000377797.7",
"protein_id": "ENSP00000367028.4",
"transcript_support_level": 5,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4329,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4437,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4329_4331delGAA",
"hgvs_p": "p.Lys1444del",
"transcript": "ENST00000513346.5",
"protein_id": "ENSP00000427484.1",
"transcript_support_level": 5,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4329,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4329,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4218_4220delGAA",
"hgvs_p": "p.Lys1407del",
"transcript": "NM_001135244.2",
"protein_id": "NP_001128716.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4218,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4268,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4218_4220delGAA",
"hgvs_p": "p.Lys1407del",
"transcript": "ENST00000439160.6",
"protein_id": "ENSP00000406888.2",
"transcript_support_level": 5,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4218,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4251,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4215_4217delGAA",
"hgvs_p": "p.Lys1406del",
"transcript": "NM_001195141.2",
"protein_id": "NP_001182070.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4215,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 4265,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4215_4217delGAA",
"hgvs_p": "p.Lys1406del",
"transcript": "ENST00000427724.7",
"protein_id": "ENSP00000390717.3",
"transcript_support_level": 5,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4215,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 4243,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4101_4103delGAA",
"hgvs_p": "p.Lys1368del",
"transcript": "NM_001135245.2",
"protein_id": "NP_001128717.1",
"transcript_support_level": null,
"aa_start": 1367,
"aa_end": null,
"aa_length": 1412,
"cds_start": 4101,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 4151,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4101_4103delGAA",
"hgvs_p": "p.Lys1368del",
"transcript": "ENST00000445265.6",
"protein_id": "ENSP00000409944.2",
"transcript_support_level": 5,
"aa_start": 1367,
"aa_end": null,
"aa_length": 1412,
"cds_start": 4101,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4098_4100delGAA",
"hgvs_p": "p.Lys1367del",
"transcript": "NM_000356.4",
"protein_id": "NP_000347.2",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4098,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4148,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4098_4100delGAA",
"hgvs_p": "p.Lys1367del",
"transcript": "NM_001437406.1",
"protein_id": "NP_001424335.1",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4098,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4148,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3987_3989delGAA",
"hgvs_p": "p.Lys1330del",
"transcript": "ENST00000650162.1",
"protein_id": "ENSP00000497075.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3987,
"cds_end": null,
"cds_length": 4076,
"cdna_start": 4105,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.429_431delGAA",
"hgvs_p": "p.Lys144del",
"transcript": "ENST00000515516.1",
"protein_id": "ENSP00000426471.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 188,
"cds_start": 429,
"cds_end": null,
"cds_length": 567,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4443_4445delGAA",
"hgvs_p": "p.Lys1482del",
"transcript": "XM_005268502.5",
"protein_id": "XP_005268559.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4443,
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"cds_length": 4581,
"cdna_start": 4493,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4440_4442delGAA",
"hgvs_p": "p.Lys1481del",
"transcript": "XM_005268503.5",
"protein_id": "XP_005268560.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4440,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 4490,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4440_4442delGAA",
"hgvs_p": "p.Lys1481del",
"transcript": "XM_005268504.5",
"protein_id": "XP_005268561.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4440,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 4490,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4437_4439delGAA",
"hgvs_p": "p.Lys1480del",
"transcript": "XM_047417645.1",
"protein_id": "XP_047273601.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 1524,
"cds_start": 4437,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4487,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4329_4331delGAA",
"hgvs_p": "p.Lys1444del",
"transcript": "XM_005268506.5",
"protein_id": "XP_005268563.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4329,
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],
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"hom_count_reference_population": 13,
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"computational_score_selected": null,
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.694,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000643257.2",
"gene_symbol": "TCOF1",
"hgnc_id": 11654,
"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Treacher Collins syndrome 1,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not provided|Treacher Collins syndrome 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}