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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: 14-34999687-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=34999687&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 34999687,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000216774.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.170+38T>C",
"hgvs_p": null,
"transcript": "NM_003136.4",
"protein_id": "NP_003127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": "ENST00000216774.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000216774.11",
"protein_id": "ENSP00000216774.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": "NM_003136.4",
"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": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.465T>C",
"hgvs_p": null,
"transcript": "ENST00000555317.5",
"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": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.170+38T>C",
"hgvs_p": null,
"transcript": "NM_001440813.1",
"protein_id": "NP_001427742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000556994.5",
"protein_id": "ENSP00000451818.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000677647.1",
"protein_id": "ENSP00000504673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000678963.1",
"protein_id": "ENSP00000504518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.165+43T>C",
"hgvs_p": null,
"transcript": "ENST00000678627.1",
"protein_id": "ENSP00000504550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.24-1249T>C",
"hgvs_p": null,
"transcript": "NM_001146282.2",
"protein_id": "NP_001139754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.170+38T>C",
"hgvs_p": null,
"transcript": "NM_001411017.1",
"protein_id": "NP_001397946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000555746.6",
"protein_id": "ENSP00000451647.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.78+2900T>C",
"hgvs_p": null,
"transcript": "ENST00000546080.6",
"protein_id": "ENSP00000440629.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
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"cds_length": 1338,
"cdna_start": null,
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"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "c.-22-1249T>C",
"hgvs_p": null,
"transcript": "ENST00000555557.5",
"protein_id": "ENSP00000451775.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
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"cds_length": 1323,
"cdna_start": null,
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"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.448+38T>C",
"hgvs_p": null,
"transcript": "ENST00000553923.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.402+38T>C",
"hgvs_p": null,
"transcript": "ENST00000555535.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.116+92T>C",
"hgvs_p": null,
"transcript": "ENST00000556380.3",
"protein_id": "ENSP00000451313.1",
"transcript_support_level": 3,
"aa_start": null,
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"mane_select": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "SRP54",
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"hgvs_c": "n.456+38T>C",
"hgvs_p": null,
"transcript": "ENST00000677561.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.448+38T>C",
"hgvs_p": null,
"transcript": "ENST00000677621.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000678274.1",
"protein_id": "ENSP00000504600.1",
"transcript_support_level": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
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"hgvs_c": "n.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000678477.1",
"protein_id": "ENSP00000504671.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000678519.1",
"protein_id": "ENSP00000504376.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.170+38T>C",
"hgvs_p": null,
"transcript": "ENST00000678836.1",
"protein_id": "ENSP00000504412.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRP54",
"gene_hgnc_id": 11301,
"hgvs_c": "n.448+38T>C",
"hgvs_p": null,
"transcript": "ENST00000679045.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.82,
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "ENST00000216774.11",
"gene_symbol": "SRP54",
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"effects": [
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"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}