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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: 8-18741087-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18741087&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18741087,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_015310.4",
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2172+24362C>A",
"hgvs_p": null,
"transcript": "NM_015310.4",
"protein_id": "NP_056125.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": "ENST00000327040.13",
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2172+24362C>A",
"hgvs_p": null,
"transcript": "ENST00000327040.13",
"protein_id": "ENSP00000324127.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": "NM_015310.4",
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1977+24362C>A",
"hgvs_p": null,
"transcript": "ENST00000523619.5",
"protein_id": "ENSP00000430640.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8145,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.570+24362C>A",
"hgvs_p": null,
"transcript": "ENST00000286485.12",
"protein_id": "ENSP00000286485.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6665,
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2476-5772C>A",
"hgvs_p": null,
"transcript": "NM_001412866.1",
"protein_id": "NP_001399795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1175,
"cds_start": -4,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12244,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2475+24362C>A",
"hgvs_p": null,
"transcript": "NM_001412865.1",
"protein_id": "NP_001399794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12163,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2211+24362C>A",
"hgvs_p": null,
"transcript": "NM_001412875.1",
"protein_id": "NP_001399804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1060,
"cds_start": -4,
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"cds_length": 3183,
"cdna_start": null,
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"cdna_length": 11885,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2169+24362C>A",
"hgvs_p": null,
"transcript": "NM_001412876.1",
"protein_id": "NP_001399805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1046,
"cds_start": -4,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11780,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2082+58208C>A",
"hgvs_p": null,
"transcript": "NM_001412873.1",
"protein_id": "NP_001399802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": -4,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
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"cdna_length": 11614,
"mane_select": null,
"mane_plus": null,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2073+24362C>A",
"hgvs_p": null,
"transcript": "NM_001362819.2",
"protein_id": "NP_001349748.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1014,
"cds_start": -4,
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"cdna_start": null,
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"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2070+24362C>A",
"hgvs_p": null,
"transcript": "NM_001412871.1",
"protein_id": "NP_001399800.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "PSD3",
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"transcript": "NM_001412870.1",
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},
{
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"consequences": [
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],
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"exon_count": 14,
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"gene_symbol": "PSD3",
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"hgvs_c": "c.1980+58208C>A",
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"transcript": "NM_001412872.1",
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},
{
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],
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"gene_symbol": "PSD3",
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"transcript": "NM_001412874.1",
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},
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],
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"gene_symbol": "PSD3",
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"transcript": "NM_001412882.1",
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},
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],
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"gene_symbol": "PSD3",
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],
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"gene_symbol": "PSD3",
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"hgvs_c": "c.2070+24362C>A",
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},
{
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],
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"exon_count": 13,
"intron_rank": 6,
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"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.570+24362C>A",
"hgvs_p": null,
"transcript": "NM_206909.3",
"protein_id": "NP_996792.1",
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},
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "PSD3",
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PSD3",
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"hgvs_c": "c.495+24362C>A",
"hgvs_p": null,
"transcript": "NM_001412888.1",
"protein_id": "NP_001399817.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 6,
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"gene_symbol": "PSD3",
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"hgvs_c": "c.495+24362C>A",
"hgvs_p": null,
"transcript": "NM_001412889.1",
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},
{
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"gene_symbol": "PSD3",
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"hgvs_c": "n.*178+24362C>A",
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"transcript": "ENST00000518315.5",
"protein_id": "ENSP00000428889.1",
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}
],
"gene_symbol": "PSD3",
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"dbsnp": "rs10096702",
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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": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.278,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015310.4",
"gene_symbol": "PSD3",
"hgnc_id": 19093,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2172+24362C>A",
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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
}