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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: 1-109488566-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109488566&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109488566,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000683729.1",
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.879+101T>A",
"hgvs_p": null,
"transcript": "NM_001350175.2",
"protein_id": "NP_001337104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": "ENST00000683729.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.879+101T>A",
"hgvs_p": null,
"transcript": "ENST00000683729.1",
"protein_id": "ENSP00000507259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": "NM_001350175.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.783+101T>A",
"hgvs_p": null,
"transcript": "ENST00000369870.7",
"protein_id": "ENSP00000358886.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.879+101T>A",
"hgvs_p": null,
"transcript": "NM_001350174.1",
"protein_id": "NP_001337103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": -4,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.879+101T>A",
"hgvs_p": null,
"transcript": "ENST00000459635.2",
"protein_id": "ENSP00000507211.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": -4,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.783+101T>A",
"hgvs_p": null,
"transcript": "NM_153340.5",
"protein_id": "NP_699171.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.705+101T>A",
"hgvs_p": null,
"transcript": "NM_001350177.2",
"protein_id": "NP_001337106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 696,
"cds_start": -4,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "n.*745+101T>A",
"hgvs_p": null,
"transcript": "ENST00000463678.5",
"protein_id": "ENSP00000474312.1",
"transcript_support_level": 5,
"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": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "n.1646+101T>A",
"hgvs_p": null,
"transcript": "ENST00000497545.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "n.879+101T>A",
"hgvs_p": null,
"transcript": "ENST00000604728.6",
"protein_id": "ENSP00000507693.1",
"transcript_support_level": 3,
"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": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "n.*776+101T>A",
"hgvs_p": null,
"transcript": "ENST00000684449.1",
"protein_id": "ENSP00000506870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
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"hgvs_c": "n.*1070+101T>A",
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"transcript": "ENST00000684472.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 5,
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"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.813+101T>A",
"hgvs_p": null,
"transcript": "XM_011540638.3",
"protein_id": "XP_011538940.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "ATXN7L2",
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"hgvs_c": "c.813+101T>A",
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"transcript": "XM_047444940.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.705+101T>A",
"hgvs_p": null,
"transcript": "XM_011540639.4",
"protein_id": "XP_011538941.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
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"gene_symbol": "ATXN7L2",
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"hgvs_c": "c.705+101T>A",
"hgvs_p": null,
"transcript": "XM_011540641.3",
"protein_id": "XP_011538943.1",
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},
{
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],
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"gene_symbol": "ATXN7L2",
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"hgvs_c": "c.705+101T>A",
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"transcript": "XM_017000267.3",
"protein_id": "XP_016855756.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.705+101T>A",
"hgvs_p": null,
"transcript": "XM_047444943.1",
"protein_id": "XP_047300899.1",
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},
{
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"strand": true,
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],
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"intron_rank": 7,
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"gene_symbol": "ATXN7L2",
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"hgvs_c": "c.705+101T>A",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "ATXN7L2",
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"transcript": "XM_047444974.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ATXN7L2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"hgvs_c": "c.879+101T>A",
"hgvs_p": null,
"transcript": "XM_011540646.3",
"protein_id": "XP_011538948.1",
"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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"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATXN7L2",
"gene_hgnc_id": 28713,
"dbsnp": "rs12049330",
"frequency_reference_population": 0.0000016596795,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000165968,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.358,
"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": -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": "ENST00000683729.1",
"gene_symbol": "ATXN7L2",
"hgnc_id": 28713,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.879+101T>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
}