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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: 11-47105602-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47105602&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47105602,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000278460.12",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null,
"transcript": "NM_024113.5",
"protein_id": "NP_077018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "ENST00000278460.12",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000278460.12",
"protein_id": "ENSP00000278460.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "NM_024113.5",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000378615.7",
"protein_id": "ENSP00000367878.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1651,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000395460.6",
"protein_id": "ENSP00000378844.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null,
"transcript": "NM_001003677.3",
"protein_id": "NP_001003677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1668,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null,
"transcript": "NM_001003678.3",
"protein_id": "NP_001003678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": -4,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1159,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000378618.6",
"protein_id": "ENSP00000367881.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": -4,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1166,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.254-32043A>G",
"hgvs_p": null,
"transcript": "NM_001278222.1",
"protein_id": "NP_001265151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": -4,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1619,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null,
"transcript": "NM_001003676.3",
"protein_id": "NP_001003676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1923,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "c.59-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000526827.1",
"protein_id": "ENSP00000433707.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 714,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.*187-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000525279.5",
"protein_id": "ENSP00000432186.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"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,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.178-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000525895.5",
"protein_id": "ENSP00000432535.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.236-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000527234.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.417-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000527268.5",
"protein_id": null,
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},
{
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"strand": true,
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],
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"intron_rank": 4,
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"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.*236-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000527667.5",
"protein_id": "ENSP00000436097.1",
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"aa_start": null,
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"cds_start": -4,
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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": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.150-32043A>G",
"hgvs_p": null,
"transcript": "ENST00000527784.5",
"protein_id": "ENSP00000436571.1",
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"aa_start": null,
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},
{
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"strand": true,
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],
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "CSTPP1",
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"hgvs_c": "n.281-31714A>G",
"hgvs_p": null,
"transcript": "ENST00000528488.5",
"protein_id": "ENSP00000436595.1",
"transcript_support_level": 2,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.*223-31714A>G",
"hgvs_p": null,
"transcript": "ENST00000532633.5",
"protein_id": "ENSP00000437259.1",
"transcript_support_level": 4,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
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},
{
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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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.327-32043A>G",
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"transcript": "ENST00000532840.5",
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},
{
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"strand": true,
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],
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"intron_rank": 2,
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"gene_symbol": "CSTPP1",
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"hgvs_c": "n.295-3452A>G",
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"transcript": "ENST00000533124.5",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.65-32043A>G",
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"transcript": "ENST00000534249.5",
"protein_id": "ENSP00000433494.1",
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},
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.326-31714A>G",
"hgvs_p": null,
"transcript": "NR_103471.2",
"protein_id": null,
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"aa_start": 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": 2,
"intron_rank_end": null,
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"hgvs_c": "n.195-32043A>G",
"hgvs_p": null,
"transcript": "NR_103472.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "CSTPP1",
"gene_hgnc_id": 28720,
"dbsnp": "rs7117404",
"frequency_reference_population": 0.1029377,
"hom_count_reference_population": 1075,
"allele_count_reference_population": 15677,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.102938,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 15677,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1075,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.369,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000278460.12",
"gene_symbol": "CSTPP1",
"hgnc_id": 28720,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.281-32043A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}