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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: 3-179895448-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179895448&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PEX5L",
"hgnc_id": 30024,
"hgvs_c": "c.363+2694G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001349386.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 61900,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 626,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9089,
"cdna_start": null,
"cds_end": null,
"cds_length": 1881,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016559.3",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.198+2694G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000467460.6",
"protein_coding": true,
"protein_id": "NP_057643.1",
"strand": false,
"transcript": "NM_016559.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 626,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9089,
"cdna_start": null,
"cds_end": null,
"cds_length": 1881,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467460.6",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.198+2694G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016559.3",
"protein_coding": true,
"protein_id": "ENSP00000419975.1",
"strand": false,
"transcript": "ENST00000467460.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 624,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2818,
"cdna_start": null,
"cds_end": null,
"cds_length": 1875,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263962.12",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.192+2694G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263962.8",
"strand": false,
"transcript": "ENST00000263962.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 591,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": null,
"cds_end": null,
"cds_length": 1776,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000485199.5",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.94-7664G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418440.1",
"strand": false,
"transcript": "ENST00000485199.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 681,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9104,
"cdna_start": null,
"cds_end": null,
"cds_length": 2046,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349386.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.363+2694G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336315.1",
"strand": false,
"transcript": "NM_001349386.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9100,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349387.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.270+2694G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336316.1",
"strand": false,
"transcript": "NM_001349387.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9797,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349388.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.270+2694G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336317.1",
"strand": false,
"transcript": "NM_001349388.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 648,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9155,
"cdna_start": null,
"cds_end": null,
"cds_length": 1947,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349389.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.264+2694G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336318.1",
"strand": false,
"transcript": "NM_001349389.2",
"transcript_support_level": null
},
{
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"aa_length": 646,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8999,
"cdna_start": null,
"cds_end": null,
"cds_length": 1941,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349390.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.259-7664G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336319.1",
"strand": false,
"transcript": "NM_001349390.2",
"transcript_support_level": null
},
{
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"aa_length": 624,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256750.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.192+2694G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243679.1",
"strand": false,
"transcript": "NM_001256750.2",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 15,
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"exon_rank_end": null,
"feature": "NM_001349391.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.363+2694G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001336320.1",
"strand": false,
"transcript": "NM_001349391.2",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "NM_001349392.2",
"gene_hgnc_id": 30024,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001336321.1",
"strand": false,
"transcript": "NM_001349392.2",
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},
{
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],
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"feature": "NM_001349393.2",
"gene_hgnc_id": 30024,
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"protein_id": "NP_001336322.1",
"strand": false,
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001256751.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.126+2694G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001243680.1",
"strand": false,
"transcript": "NM_001256751.2",
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},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000465751.5",
"gene_hgnc_id": 30024,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000419348.1",
"strand": false,
"transcript": "ENST00000465751.5",
"transcript_support_level": 2
},
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001256752.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.94-7664G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001243681.1",
"strand": false,
"transcript": "NM_001256752.2",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349394.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.270+2694G>A",
"hgvs_p": null,
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"protein_coding": true,
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"strand": false,
"transcript": "NM_001349394.2",
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},
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"consequences": [
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],
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"feature": "NM_001256754.2",
"gene_hgnc_id": 30024,
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"protein_id": "NP_001243683.1",
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"transcript": "NM_001256754.2",
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},
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],
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"feature": "NM_001349395.2",
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"protein_id": "NP_001336324.1",
"strand": false,
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},
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000476138.5",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.69+2694G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420555.1",
"strand": false,
"transcript": "ENST00000476138.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256753.2",
"gene_hgnc_id": 30024,
"gene_symbol": "PEX5L",
"hgvs_c": "c.22-7664G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001243682.1",
"strand": false,
"transcript": "NM_001256753.2",
"transcript_support_level": null
},
{
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