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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: 17-3935332-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=3935332&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 3935332,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000397041.8",
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "NM_005173.4",
"protein_id": "NP_005164.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": -4,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4695,
"mane_select": "ENST00000397041.8",
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "ENST00000397041.8",
"protein_id": "ENSP00000380234.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": -4,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4695,
"mane_select": "NM_005173.4",
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "ENST00000397043.7",
"protein_id": "ENSP00000380236.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3197,
"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": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "NM_174953.3",
"protein_id": "NP_777613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1052,
"cds_start": -4,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4854,
"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": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "ENST00000359983.7",
"protein_id": "ENSP00000353072.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1052,
"cds_start": -4,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"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": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "NM_174954.3",
"protein_id": "NP_777614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1044,
"cds_start": -4,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4841,
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "NM_174955.3",
"protein_id": "NP_777615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": -4,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4783,
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "ENST00000352011.7",
"protein_id": "ENSP00000301387.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": -4,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3274,
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "NM_174956.3",
"protein_id": "NP_777616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1029,
"cds_start": -4,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "NM_174958.3",
"protein_id": "NP_777618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1029,
"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,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
"hgvs_p": null,
"transcript": "ENST00000309890.11",
"protein_id": "ENSP00000312577.7",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
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"gene_symbol": "ATP2A3",
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"transcript": "ENST00000397035.8",
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},
{
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 16,
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"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
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"transcript": "NM_174957.3",
"protein_id": "NP_777617.1",
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},
{
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],
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"gene_symbol": "ATP2A3",
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"hgvs_c": "n.87-55A>T",
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"transcript": "ENST00000572176.1",
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},
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],
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"transcript": "ENST00000576957.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 16,
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"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
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"transcript": "XM_011523881.3",
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},
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],
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"gene_symbol": "ATP2A3",
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"hgvs_c": "c.2525-55A>T",
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"transcript": "XM_011523882.3",
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},
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],
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"intron_rank": 16,
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"gene_symbol": "ATP2A3",
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"hgvs_c": "c.2525-55A>T",
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"transcript": "XM_011523884.4",
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},
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],
"exon_rank": null,
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"intron_rank": 16,
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"gene_symbol": "ATP2A3",
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"hgvs_c": "c.2525-55A>T",
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],
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2525-55A>T",
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"transcript": "XM_011523888.3",
"protein_id": "XP_011522190.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
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"hgvs_c": "c.2525-55A>T",
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"transcript": "XM_047436152.1",
"protein_id": "XP_047292108.1",
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{
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},
{
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],
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"gene_symbol": "ATP2A3",
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}
],
"gene_symbol": "ATP2A3",
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"dbsnp": "rs2074991",
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"allele_count_reference_population": 4,
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"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.002,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000397041.8",
"gene_symbol": "ATP2A3",
"hgnc_id": 813,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2525-55A>T",
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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
}