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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: X-109730110-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=109730110&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 109730110,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000672401.1",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-66+3029C>G",
"hgvs_p": null,
"transcript": "NM_001318510.2",
"protein_id": "NP_001305439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "ENST00000672401.1",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-66+3029C>G",
"hgvs_p": null,
"transcript": "ENST00000672401.1",
"protein_id": "ENSP00000500273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "NM_001318510.2",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-63+3029C>G",
"hgvs_p": null,
"transcript": "ENST00000348502.10",
"protein_id": "ENSP00000262835.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5032,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-234+3029C>G",
"hgvs_p": null,
"transcript": "NM_001318509.2",
"protein_id": "NP_001305438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5182,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-120+3029C>G",
"hgvs_p": null,
"transcript": "NM_001437245.1",
"protein_id": "NP_001424174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5068,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-67+3029C>G",
"hgvs_p": null,
"transcript": "NM_001437247.1",
"protein_id": "NP_001424176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5015,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-181+3029C>G",
"hgvs_p": null,
"transcript": "NM_001437248.1",
"protein_id": "NP_001424177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5129,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-252+3029C>G",
"hgvs_p": null,
"transcript": "NM_022977.3",
"protein_id": "NP_075266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5200,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-252+3029C>G",
"hgvs_p": null,
"transcript": "ENST00000340800.7",
"protein_id": "ENSP00000339787.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
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"cdna_length": 5172,
"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,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-234+3029C>G",
"hgvs_p": null,
"transcript": "ENST00000469796.7",
"protein_id": "ENSP00000419171.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 1,
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"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.-181+3029C>G",
"hgvs_p": null,
"transcript": "ENST00000502391.6",
"protein_id": "ENSP00000425408.2",
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"aa_start": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "ACSL4",
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"transcript": "ENST00000671846.1",
"protein_id": "ENSP00000500897.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ACSL4",
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"hgvs_c": "c.-195+3029C>G",
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"transcript": "NM_001437250.1",
"protein_id": "NP_001424179.1",
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},
{
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],
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"gene_symbol": "ACSL4",
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"transcript": "NM_001437251.1",
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},
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],
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"transcript": "NM_001437252.1",
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},
{
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],
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"gene_symbol": "ACSL4",
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"hgvs_c": "c.-109+3029C>G",
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],
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"gene_symbol": "ACSL4",
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"transcript": "NM_004458.3",
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},
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],
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"gene_symbol": "ACSL4",
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"hgvs_c": "c.-13+3029C>G",
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"transcript": "ENST00000672282.1",
"protein_id": "ENSP00000500678.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "ACSL4",
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"hgvs_c": "c.-195+3029C>G",
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"transcript": "ENST00000673016.1",
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],
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},
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],
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"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "n.137+3029C>G",
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"transcript": "ENST00000504383.1",
"protein_id": null,
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},
{
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],
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "ACSL4",
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"hgvs_c": "n.160+3029C>G",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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}
],
"gene_symbol": "ACSL4",
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"dbsnp": "rs5943427",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.520032,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 57710,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11077,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.154,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000672401.1",
"gene_symbol": "ACSL4",
"hgnc_id": 3571,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.-66+3029C>G",
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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
}