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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: 8-132848400-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132848400&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132848400,
"ref": "G",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000395386.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"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": -4,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": "ENST00000395386.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"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": -4,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": "NM_016018.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "n.5551G>T",
"hgvs_p": null,
"transcript": "NR_156424.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"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": -4,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"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": -4,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"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": -4,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"hgvs_p": null,
"transcript": "NM_001438312.1",
"protein_id": "NP_001425241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": -4,
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"cds_length": 2982,
"cdna_start": null,
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"cdna_length": 6161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"hgvs_p": null,
"transcript": "NM_001438313.1",
"protein_id": "NP_001425242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 992,
"cds_start": -4,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"hgvs_p": null,
"transcript": "ENST00000395390.6",
"protein_id": "ENSP00000378788.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 992,
"cds_start": -4,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
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"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"hgvs_p": null,
"transcript": "NM_001277196.2",
"protein_id": "NP_001264125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
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"transcript": "NM_001362971.2",
"protein_id": "NP_001349900.1",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "PHF20L1",
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"hgvs_c": "c.*2477G>T",
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"transcript": "XM_011517075.1",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "PHF20L1",
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"hgvs_c": "c.*2477G>T",
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"transcript": "XM_011517076.1",
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},
{
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],
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "PHF20L1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
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"transcript": "XM_047421816.1",
"protein_id": "XP_047277772.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 21,
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"intron_rank": null,
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"gene_symbol": "PHF20L1",
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"hgvs_c": "c.*2477G>T",
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},
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],
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"intron_rank": null,
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"gene_symbol": "PHF20L1",
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"hgvs_c": "c.*2477G>T",
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"transcript": "XM_047421818.1",
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},
{
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"strand": true,
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],
"exon_rank": 21,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
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"transcript": "XM_011517079.1",
"protein_id": "XP_011515381.1",
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},
{
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"strand": true,
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],
"exon_rank": 21,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
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"protein_id": "XP_016868998.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "PHF20L1",
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},
{
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],
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"intron_rank": null,
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"hgvs_c": "c.*2477G>T",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
"hgvs_p": null,
"transcript": "XM_017013510.1",
"protein_id": "XP_016868999.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.*2477G>T",
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"transcript": "XM_011517081.1",
"protein_id": "XP_011515383.1",
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}
],
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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"inheritance_mode": "",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}