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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: 9-85550834-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=85550834&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 85550834,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000357081.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3504-3548T>C",
"hgvs_p": null,
"transcript": "NM_001330701.2",
"protein_id": "NP_001317630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": "ENST00000357081.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3504-3548T>C",
"hgvs_p": null,
"transcript": "ENST00000357081.8",
"protein_id": "ENSP00000349592.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": "NM_001330701.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3384-3548T>C",
"hgvs_p": null,
"transcript": "ENST00000376083.7",
"protein_id": "ENSP00000365251.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3660-3548T>C",
"hgvs_p": null,
"transcript": "NM_001286715.1",
"protein_id": "NP_001273644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3660-3548T>C",
"hgvs_p": null,
"transcript": "ENST00000337006.8",
"protein_id": "ENSP00000338512.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3540-3548T>C",
"hgvs_p": null,
"transcript": "NM_001286717.1",
"protein_id": "NP_001273646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1238,
"cds_start": -4,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3540-3548T>C",
"hgvs_p": null,
"transcript": "ENST00000628899.1",
"protein_id": "ENSP00000487074.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1238,
"cds_start": -4,
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"cds_length": 3717,
"cdna_start": null,
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"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3384-3548T>C",
"hgvs_p": null,
"transcript": "NM_015239.3",
"protein_id": "NP_056054.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3504-3548T>C",
"hgvs_p": null,
"transcript": "XM_005251848.3",
"protein_id": "XP_005251905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": -4,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3504-3548T>C",
"hgvs_p": null,
"transcript": "XM_047423086.1",
"protein_id": "XP_047279042.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
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"hgvs_c": "c.3504-3548T>C",
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"transcript": "XM_047423087.1",
"protein_id": "XP_047279043.1",
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},
{
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"strand": false,
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],
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},
{
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],
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"gene_symbol": "AGTPBP1",
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"hgvs_c": "c.3504-3548T>C",
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},
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],
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"gene_symbol": "AGTPBP1",
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},
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],
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],
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},
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],
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"gene_symbol": "AGTPBP1",
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"hgvs_c": "c.3504-3548T>C",
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},
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],
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"gene_symbol": "AGTPBP1",
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"hgvs_c": "c.3150-3548T>C",
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"transcript": "XM_047423099.1",
"protein_id": "XP_047279055.1",
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},
{
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],
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"gene_symbol": "AGTPBP1",
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"hgvs_c": "c.3030-3548T>C",
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},
{
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}
],
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"gnomad_genomes_af": 0.00266024,
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"gnomad_genomes_ac": 405,
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"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.129,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357081.8",
"gene_symbol": "AGTPBP1",
"hgnc_id": 17258,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3504-3548T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}