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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: 8-132826057-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132826057&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132826057,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001438309.1",
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1744+686C>A",
"hgvs_p": null,
"transcript": "NM_016018.5",
"protein_id": "NP_057102.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": null,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395386.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016018.5"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1744+686C>A",
"hgvs_p": null,
"transcript": "ENST00000395386.7",
"protein_id": "ENSP00000378784.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": null,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016018.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395386.7"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1759+686C>A",
"hgvs_p": null,
"transcript": "ENST00000939789.1",
"protein_id": "ENSP00000609848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1023,
"cds_start": null,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939789.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1759+686C>A",
"hgvs_p": null,
"transcript": "NM_001438309.1",
"protein_id": "NP_001425238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": null,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438309.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1756+686C>A",
"hgvs_p": null,
"transcript": "NM_001438310.1",
"protein_id": "NP_001425239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1021,
"cds_start": null,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438310.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1756+686C>A",
"hgvs_p": null,
"transcript": "ENST00000905699.1",
"protein_id": "ENSP00000575758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1021,
"cds_start": null,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905699.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1756+686C>A",
"hgvs_p": null,
"transcript": "ENST00000972151.1",
"protein_id": "ENSP00000642210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1021,
"cds_start": null,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972151.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1747+686C>A",
"hgvs_p": null,
"transcript": "NM_001438311.1",
"protein_id": "NP_001425240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1018,
"cds_start": null,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438311.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1747+686C>A",
"hgvs_p": null,
"transcript": "ENST00000939786.1",
"protein_id": "ENSP00000609845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1018,
"cds_start": null,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939786.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1744+686C>A",
"hgvs_p": null,
"transcript": "ENST00000939787.1",
"protein_id": "ENSP00000609846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1018,
"cds_start": null,
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"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939787.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1747+686C>A",
"hgvs_p": null,
"transcript": "ENST00000972150.1",
"protein_id": "ENSP00000642209.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1018,
"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": "ENST00000972150.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1744+686C>A",
"hgvs_p": null,
"transcript": "ENST00000622263.4",
"protein_id": "ENSP00000482945.1",
"transcript_support_level": 5,
"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": "ENST00000622263.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
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"hgvs_c": "c.1678+686C>A",
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"transcript": "ENST00000972152.1",
"protein_id": "ENSP00000642211.1",
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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": "ENST00000972152.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 13,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1669+686C>A",
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"transcript": "NM_001438312.1",
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"biotype": "protein_coding",
"feature": "NM_001438312.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1669+686C>A",
"hgvs_p": null,
"transcript": "ENST00000939788.1",
"protein_id": "ENSP00000609847.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "ENST00000939788.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1669+686C>A",
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"transcript": "ENST00000939790.1",
"protein_id": "ENSP00000609849.1",
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"biotype": "protein_coding",
"feature": "ENST00000939790.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1666+686C>A",
"hgvs_p": null,
"transcript": "NM_001438313.1",
"protein_id": "NP_001425242.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438313.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1669+686C>A",
"hgvs_p": null,
"transcript": "ENST00000395390.6",
"protein_id": "ENSP00000378788.2",
"transcript_support_level": 5,
"aa_start": null,
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"biotype": "protein_coding",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1669+686C>A",
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},
{
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"strand": true,
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],
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"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1666+686C>A",
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"transcript": "ENST00000939785.1",
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"feature": "ENST00000939785.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1666+686C>A",
"hgvs_p": null,
"transcript": "ENST00000972149.1",
"protein_id": "ENSP00000642208.1",
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"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": "ENST00000972149.1"
},
{
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1666+686C>A",
"hgvs_p": null,
"transcript": "NM_001277196.2",
"protein_id": "NP_001264125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": null,
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"cds_length": 2976,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277196.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001438309.1",
"gene_symbol": "PHF20L1",
"hgnc_id": 24280,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1759+686C>A",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000602328.1",
"gene_symbol": "ENSG00000270137",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-122C>A",
"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
}