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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: 11-65623846-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65623846&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65623846,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_032223.4",
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2512-83G>C",
"hgvs_p": null,
"transcript": "NM_032223.4",
"protein_id": "NP_115599.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2034,
"cds_start": null,
"cds_end": null,
"cds_length": 6105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7102,
"mane_select": "ENST00000355703.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032223.4"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2512-83G>C",
"hgvs_p": null,
"transcript": "ENST00000355703.4",
"protein_id": "ENSP00000347931.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2034,
"cds_start": null,
"cds_end": null,
"cds_length": 6105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7102,
"mane_select": "NM_032223.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355703.4"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2551-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913358.1",
"protein_id": "ENSP00000583417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2047,
"cds_start": null,
"cds_end": null,
"cds_length": 6144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913358.1"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2548-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913354.1",
"protein_id": "ENSP00000583413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2046,
"cds_start": null,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913354.1"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2509-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913355.1",
"protein_id": "ENSP00000583414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2033,
"cds_start": null,
"cds_end": null,
"cds_length": 6102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913355.1"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2512-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913359.1",
"protein_id": "ENSP00000583418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2033,
"cds_start": null,
"cds_end": null,
"cds_length": 6102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913359.1"
},
{
"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": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2479-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913361.1",
"protein_id": "ENSP00000583420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2023,
"cds_start": null,
"cds_end": null,
"cds_length": 6072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913361.1"
},
{
"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": 34,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2551-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913360.1",
"protein_id": "ENSP00000583419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2016,
"cds_start": null,
"cds_end": null,
"cds_length": 6051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913360.1"
},
{
"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": 34,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2512-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913356.1",
"protein_id": "ENSP00000583415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2003,
"cds_start": null,
"cds_end": null,
"cds_length": 6012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913356.1"
},
{
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2248-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913357.1",
"protein_id": "ENSP00000583416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1946,
"cds_start": null,
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"cds_length": 5841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913357.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2209-83G>C",
"hgvs_p": null,
"transcript": "ENST00000913353.1",
"protein_id": "ENSP00000583412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1933,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000913353.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2551-83G>C",
"hgvs_p": null,
"transcript": "XM_011545024.3",
"protein_id": "XP_011543326.1",
"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,
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"biotype": "protein_coding",
"feature": "XM_011545024.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 12,
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"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2548-83G>C",
"hgvs_p": null,
"transcript": "XM_005273987.6",
"protein_id": "XP_005274044.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "PCNX3",
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"hgvs_c": "c.2533-83G>C",
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"transcript": "XM_006718549.5",
"protein_id": "XP_006718612.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 12,
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"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2530-83G>C",
"hgvs_p": null,
"transcript": "XM_047426937.1",
"protein_id": "XP_047282893.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "PCNX3",
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"hgvs_c": "c.2509-83G>C",
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"transcript": "XM_047426938.1",
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"feature": "XM_047426938.1"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2551-83G>C",
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"transcript": "XM_011545025.4",
"protein_id": "XP_011543327.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 12,
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"gene_symbol": "PCNX3",
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"hgvs_c": "c.2551-83G>C",
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"transcript": "XM_047426939.1",
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},
{
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"intron_variant"
],
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"intron_rank": 12,
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"gene_symbol": "PCNX3",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.2551-83G>C",
"hgvs_p": null,
"transcript": "XM_005273990.6",
"protein_id": "XP_005274047.1",
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"biotype": "protein_coding",
"feature": "XM_005273990.6"
}
],
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"dbsnp": "rs12801636",
"frequency_reference_population": null,
"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": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.428,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032223.4",
"gene_symbol": "PCNX3",
"hgnc_id": 18760,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2512-83G>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
}