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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: 16-84464239-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84464239&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "ATP2C2",
"hgnc_id": 29103,
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000416219.7",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ATP2C2-AS1",
"hgnc_id": 53167,
"hgvs_c": "n.59-1240G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000565700.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 975,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": null,
"cds_end": null,
"cds_length": 2928,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000416219.7",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397925.2",
"strand": true,
"transcript": "ENST00000416219.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565700.1",
"gene_hgnc_id": 53167,
"gene_symbol": "ATP2C2-AS1",
"hgvs_c": "n.59-1240G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000565700.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 971,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": null,
"cds_end": null,
"cds_length": 2916,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000861763.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531822.1",
"strand": true,
"transcript": "ENST00000861763.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000861762.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531821.1",
"strand": true,
"transcript": "ENST00000861762.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_146503.1",
"gene_hgnc_id": 53167,
"gene_symbol": "ATP2C2-AS1",
"hgvs_c": "n.59-1240G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_146503.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 946,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": null,
"cds_end": null,
"cds_length": 2841,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014861.4",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262429.9",
"protein_coding": true,
"protein_id": "NP_055676.3",
"strand": true,
"transcript": "NM_014861.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 946,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": null,
"cds_end": null,
"cds_length": 2841,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262429.9",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014861.4",
"protein_coding": true,
"protein_id": "ENSP00000262429.4",
"strand": true,
"transcript": "ENST00000262429.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 975,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": null,
"cds_end": null,
"cds_length": 2928,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286527.3",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273456.2",
"strand": true,
"transcript": "NM_001286527.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 971,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": null,
"cds_end": null,
"cds_length": 2916,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861768.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531827.1",
"strand": true,
"transcript": "ENST00000861768.1",
"transcript_support_level": null
},
{
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"aa_length": 952,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3394,
"cdna_start": null,
"cds_end": null,
"cds_length": 2859,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861767.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531826.1",
"strand": true,
"transcript": "ENST00000861767.1",
"transcript_support_level": null
},
{
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"aa_length": 944,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": null,
"cds_end": null,
"cds_length": 2835,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
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"feature": "ENST00000861766.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531825.1",
"strand": true,
"transcript": "ENST00000861766.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2835,
"cds_start": null,
"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000957789.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627848.1",
"strand": true,
"transcript": "ENST00000957789.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
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"feature": "ENST00000861764.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531823.1",
"strand": true,
"transcript": "ENST00000861764.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
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"feature": "ENST00000861771.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531830.1",
"strand": true,
"transcript": "ENST00000861771.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957791.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627850.1",
"strand": true,
"transcript": "ENST00000957791.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3079,
"cdna_start": null,
"cds_end": null,
"cds_length": 2730,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957790.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627849.1",
"strand": true,
"transcript": "ENST00000957790.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000861769.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
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"protein_coding": true,
"protein_id": "ENSP00000531828.1",
"strand": true,
"transcript": "ENST00000861769.1",
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},
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"cds_end": null,
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"consequences": [
"downstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000861770.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531829.1",
"strand": true,
"transcript": "ENST00000861770.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861765.1",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531824.1",
"strand": true,
"transcript": "ENST00000861765.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": null,
"cds_end": null,
"cds_length": 2388,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291454.2",
"gene_hgnc_id": 29103,
"gene_symbol": "ATP2C2",
"hgvs_c": "c.*507C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278383.1",
"strand": true,
"transcript": "NM_001291454.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": null,
"cds_end": null,
"cds_length": 2859,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011523486.3",
"gene_hgnc_id": 29103,
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