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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: 21-45745515-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45745515&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 45745515,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000681687.1",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-161-9902A>G",
"hgvs_p": null,
"transcript": "NM_001384156.1",
"protein_id": "NP_001371085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": "ENST00000681687.1",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-161-9902A>G",
"hgvs_p": null,
"transcript": "ENST00000681687.1",
"protein_id": "ENSP00000505796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": "NM_001384156.1",
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-161-9902A>G",
"hgvs_p": null,
"transcript": "NM_001348240.2",
"protein_id": "NP_001335169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2272,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-161-9902A>G",
"hgvs_p": null,
"transcript": "NM_001348239.2",
"protein_id": "NP_001335168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2348,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-161-9902A>G",
"hgvs_p": null,
"transcript": "NM_001348241.2",
"protein_id": "NP_001335170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2315,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-126+101647A>G",
"hgvs_p": null,
"transcript": "NM_001382281.1",
"protein_id": "NP_001369210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2129,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-126+76563A>G",
"hgvs_p": null,
"transcript": "NM_001382282.1",
"protein_id": "NP_001369211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2208,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-161-9902A>G",
"hgvs_p": null,
"transcript": "NM_001382283.1",
"protein_id": "NP_001369212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2244,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-161-9902A>G",
"hgvs_p": null,
"transcript": "NM_001382284.1",
"protein_id": "NP_001369213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2362,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-126+10086A>G",
"hgvs_p": null,
"transcript": "NM_001382285.1",
"protein_id": "NP_001369214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2246,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-126+10086A>G",
"hgvs_p": null,
"transcript": "NM_001382286.1",
"protein_id": "NP_001369215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2326,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-126+10086A>G",
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"transcript": "NM_001382287.1",
"protein_id": "NP_001369216.1",
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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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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-161-9902A>G",
"hgvs_p": null,
"transcript": "NM_001382288.1",
"protein_id": "NP_001369217.1",
"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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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-126+10086A>G",
"hgvs_p": null,
"transcript": "ENST00000400314.5",
"protein_id": "ENSP00000383168.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PCBP3",
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"hgvs_c": "c.-161-9902A>G",
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"transcript": "NM_001348238.2",
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 3,
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"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.-352-9902A>G",
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"transcript": "NM_001348242.2",
"protein_id": "NP_001335171.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "PCBP3",
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"hgvs_c": "c.-374-9902A>G",
"hgvs_p": null,
"transcript": "NM_001382276.1",
"protein_id": "NP_001369205.1",
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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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "n.286+10086A>G",
"hgvs_p": null,
"transcript": "ENST00000465077.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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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": 2,
"intron_rank": 1,
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"gene_symbol": "PCBP3",
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"hgvs_c": "n.39-3866A>G",
"hgvs_p": null,
"transcript": "ENST00000593338.1",
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},
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],
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},
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],
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"gene_symbol": "PCBP3",
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"hgvs_c": "n.177+1178A>G",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "n.262-9902A>G",
"hgvs_p": null,
"transcript": "NR_145492.2",
"protein_id": null,
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"aa_length": 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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "n.262-9902A>G",
"hgvs_p": null,
"transcript": "NR_189734.1",
"protein_id": 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": "PCBP3",
"gene_hgnc_id": 8651,
"dbsnp": "rs8127571",
"frequency_reference_population": 0.91958636,
"hom_count_reference_population": 64564,
"allele_count_reference_population": 140053,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.919586,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 140053,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 64564,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.055,
"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": "ENST00000681687.1",
"gene_symbol": "PCBP3",
"hgnc_id": 8651,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-161-9902A>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
}