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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: 8-132632957-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132632957&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132632957,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000620350.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "NM_012472.6",
"protein_id": "NP_036604.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 466,
"cds_start": 436,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": "ENST00000620350.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "ENST00000620350.5",
"protein_id": "ENSP00000484634.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 466,
"cds_start": 436,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": "NM_012472.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "ENST00000519595.5",
"protein_id": "ENSP00000429791.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 466,
"cds_start": 436,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "ENST00000250173.5",
"protein_id": "ENSP00000250173.2",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 411,
"cds_start": 436,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "ENST00000518642.5",
"protein_id": "ENSP00000428610.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 411,
"cds_start": 436,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "NM_001321961.2",
"protein_id": "NP_001308890.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 446,
"cds_start": 436,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Asp64His",
"transcript": "NM_001321962.2",
"protein_id": "NP_001308891.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 384,
"cds_start": 190,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.76G>C",
"hgvs_p": "p.Asp26His",
"transcript": "NM_001321963.2",
"protein_id": "NP_001308892.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 346,
"cds_start": 76,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.76G>C",
"hgvs_p": "p.Asp26His",
"transcript": "NM_001321964.2",
"protein_id": "NP_001308893.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 346,
"cds_start": 76,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.76G>C",
"hgvs_p": "p.Asp26His",
"transcript": "NM_001321965.2",
"protein_id": "NP_001308894.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 346,
"cds_start": 76,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.76G>C",
"hgvs_p": "p.Asp26His",
"transcript": "NM_001321966.2",
"protein_id": "NP_001308895.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 326,
"cds_start": 76,
"cds_end": null,
"cds_length": 981,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.454G>C",
"hgvs_p": "p.Asp152His",
"transcript": "XM_006716538.4",
"protein_id": "XP_006716601.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 472,
"cds_start": 454,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.454G>C",
"hgvs_p": "p.Asp152His",
"transcript": "XM_011516950.3",
"protein_id": "XP_011515252.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 452,
"cds_start": 454,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.334G>C",
"hgvs_p": "p.Asp112His",
"transcript": "XM_017013296.2",
"protein_id": "XP_016868785.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 432,
"cds_start": 334,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.454G>C",
"hgvs_p": "p.Asp152His",
"transcript": "XM_047421656.1",
"protein_id": "XP_047277612.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 424,
"cds_start": 454,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "XM_047421657.1",
"protein_id": "XP_047277613.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 418,
"cds_start": 436,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 488,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.454G>C",
"hgvs_p": "p.Asp152His",
"transcript": "XM_047421658.1",
"protein_id": "XP_047277614.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 404,
"cds_start": 454,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Asp146His",
"transcript": "XM_047421659.1",
"protein_id": "XP_047277615.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 398,
"cds_start": 436,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.76G>C",
"hgvs_p": "p.Asp26His",
"transcript": "XM_047421660.1",
"protein_id": "XP_047277616.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 346,
"cds_start": 76,
"cds_end": null,
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"cdna_start": 347,
"cdna_end": null,
"cdna_length": 3202,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.488G>C",
"hgvs_p": null,
"transcript": "NR_073525.3",
"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,
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"cdna_length": 3443,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.1546G>C",
"hgvs_p": null,
"transcript": "XR_007060728.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.528+4978G>C",
"hgvs_p": null,
"transcript": "ENST00000520446.5",
"protein_id": null,
"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": 711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "n.415+4978G>C",
"hgvs_p": null,
"transcript": "ENST00000523503.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.474,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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{
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"verdict": "Pathogenic",
"transcript": "ENST00000620350.5",
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],
"clinvar_disease": "Heterotaxy,Primary ciliary dyskinesia,Primary ciliary dyskinesia 19,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:1 O:1",
"phenotype_combined": "Primary ciliary dyskinesia 19|Heterotaxy|Primary ciliary dyskinesia|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}