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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: 1-148892307-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=148892307&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 148892307,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001377392.2",
"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": 47,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.339+2413T>C",
"hgvs_p": null,
"transcript": "NM_001395426.1",
"protein_id": "NP_001382355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2412,
"cds_start": null,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695795.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395426.1"
},
{
"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": 47,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.339+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000695795.1",
"protein_id": "ENSP00000512175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2412,
"cds_start": null,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395426.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695795.1"
},
{
"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": 44,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.141+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000369356.8",
"protein_id": "ENSP00000358363.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2362,
"cds_start": null,
"cds_end": null,
"cds_length": 7089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369356.8"
},
{
"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": 44,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.141+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000369354.7",
"protein_id": "ENSP00000358360.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2346,
"cds_start": null,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369354.7"
},
{
"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": 46,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.339+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000618462.4",
"protein_id": "ENSP00000479409.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": null,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618462.4"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.141+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000369351.7",
"protein_id": "ENSP00000358357.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 988,
"cds_start": null,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369351.7"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.141+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000369349.7",
"protein_id": "ENSP00000358355.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": null,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369349.7"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.552+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000530472.5",
"protein_id": "ENSP00000482121.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530472.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.141+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000369347.8",
"protein_id": "ENSP00000358353.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369347.8"
},
{
"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": 47,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.552+2413T>C",
"hgvs_p": null,
"transcript": "NM_001377392.2",
"protein_id": "NP_001364321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2483,
"cds_start": null,
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"cds_length": 7452,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377392.2"
},
{
"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": 47,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.552+2413T>C",
"hgvs_p": null,
"transcript": "ENST00000695794.1",
"protein_id": "ENSP00000512174.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000695794.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 47,
"intron_rank": 4,
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"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.552+2413T>C",
"hgvs_p": null,
"transcript": "NM_001395298.1",
"protein_id": "NP_001382227.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395298.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 47,
"intron_rank": 4,
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"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.552+2413T>C",
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"transcript": "ENST00000585156.5",
"protein_id": "ENSP00000462316.2",
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"cdna_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "PDE4DIP",
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"hgvs_c": "c.552+2413T>C",
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"transcript": "NM_001350521.4",
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"feature": "NM_001350521.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.441+23685T>C",
"hgvs_p": null,
"transcript": "NM_001395300.1",
"protein_id": "NP_001382229.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
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],
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"exon_count": 46,
"intron_rank": 4,
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"gene_symbol": "PDE4DIP",
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"hgvs_c": "c.552+2413T>C",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 45,
"intron_rank": 3,
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"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.441+23685T>C",
"hgvs_p": null,
"transcript": "NM_001395302.1",
"protein_id": "NP_001382231.1",
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"feature": "NM_001395302.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.441+23685T>C",
"hgvs_p": null,
"transcript": "ENST00000695768.1",
"protein_id": "ENSP00000512160.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "PDE4DIP",
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"hgvs_c": "c.552+2413T>C",
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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": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.339+2413T>C",
"hgvs_p": null,
"transcript": "NM_001395304.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.141+2413T>C",
"hgvs_p": null,
"transcript": "NM_001198834.5",
"protein_id": "NP_001185763.3",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198834.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.339+2413T>C",
"hgvs_p": null,
"transcript": "NM_001395305.1",
"protein_id": "NP_001382234.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395305.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 45,
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"gene_symbol": "PDE4DIP",
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"biotype": "pseudogene",
"feature": "ENST00000706648.1"
}
],
"gene_symbol": "PDE4DIP",
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"dbsnp": "rs2863344",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.4,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001377392.2",
"gene_symbol": "PDE4DIP",
"hgnc_id": 15580,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.552+2413T>C",
"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
}