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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: 6-147382163-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=147382163&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 147382163,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000321680.11",
"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": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.3194-615A>T",
"hgvs_p": null,
"transcript": "NM_001127715.4",
"protein_id": "NP_001121187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9290,
"mane_select": "ENST00000321680.11",
"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": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.3194-615A>T",
"hgvs_p": null,
"transcript": "ENST00000321680.11",
"protein_id": "ENSP00000321826.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9290,
"mane_select": "NM_001127715.4",
"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": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.3086-615A>T",
"hgvs_p": null,
"transcript": "ENST00000367481.7",
"protein_id": "ENSP00000356451.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.3535-615A>T",
"hgvs_p": null,
"transcript": "ENST00000443556.2",
"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": 8727,
"mane_select": null,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.204A>T",
"hgvs_p": null,
"transcript": "ENST00000706866.1",
"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,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5133,
"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": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.3146-615A>T",
"hgvs_p": null,
"transcript": "NM_001394409.1",
"protein_id": "NP_001381338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": -4,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9242,
"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": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.3086-615A>T",
"hgvs_p": null,
"transcript": "NM_139244.6",
"protein_id": "NP_640337.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9182,
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.3035-615A>T",
"hgvs_p": null,
"transcript": "ENST00000367480.7",
"protein_id": "ENSP00000356450.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": -4,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.3146-615A>T",
"hgvs_p": null,
"transcript": "ENST00000367475.7",
"protein_id": "ENSP00000356445.3",
"transcript_support_level": 5,
"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": 8338,
"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": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.3086-615A>T",
"hgvs_p": null,
"transcript": "ENST00000706849.1",
"protein_id": "ENSP00000516590.1",
"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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"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": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.3086-615A>T",
"hgvs_p": null,
"transcript": "ENST00000706850.1",
"protein_id": "ENSP00000516591.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 27,
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"gene_symbol": "STXBP5",
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"hgvs_c": "n.*944-615A>T",
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"transcript": "ENST00000706851.1",
"protein_id": "ENSP00000516592.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 26,
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"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.2651-615A>T",
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"transcript": "ENST00000706854.1",
"protein_id": "ENSP00000516593.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "STXBP5",
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"hgvs_c": "n.1353-615A>T",
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"transcript": "ENST00000706862.1",
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},
{
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],
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"gene_symbol": "STXBP5",
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"hgvs_c": "n.3831-615A>T",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "STXBP5",
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"hgvs_c": "n.1523-615A>T",
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},
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],
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"gene_symbol": "STXBP5",
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"transcript": "ENST00000706865.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 27,
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"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.3278-615A>T",
"hgvs_p": null,
"transcript": "XM_047418197.1",
"protein_id": "XP_047274153.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 26,
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"gene_symbol": "STXBP5",
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"hgvs_c": "c.3230-615A>T",
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],
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},
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],
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"gene_symbol": "STXBP5",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 19,
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"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.2291-615A>T",
"hgvs_p": null,
"transcript": "XM_047418201.1",
"protein_id": "XP_047274157.1",
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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": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.3394-615A>T",
"hgvs_p": null,
"transcript": "XR_007059201.1",
"protein_id": null,
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},
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{
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],
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"gnomad_genomes_af": 0.510193,
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"gnomad_genomes_ac": 77531,
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"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.91,
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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{
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"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000321680.11",
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"effects": [
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}