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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: 2-182766793-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182766793&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 182766793,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000264065.12",
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.2265+3992G>T",
"hgvs_p": null,
"transcript": "NM_018981.4",
"protein_id": "NP_061854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20144,
"mane_select": "ENST00000264065.12",
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.2265+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000264065.12",
"protein_id": "ENSP00000264065.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20144,
"mane_select": "NM_018981.4",
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.2127+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000616986.5",
"protein_id": "ENSP00000479930.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": -4,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20006,
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.*1330+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000418559.6",
"protein_id": "ENSP00000389483.1",
"transcript_support_level": 1,
"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": 19607,
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.3513+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000491074.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 20962,
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.2205+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000680258.1",
"protein_id": "ENSP00000504932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": -4,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20086,
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.2190+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000679884.1",
"protein_id": "ENSP00000506233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19812,
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.2127+3992G>T",
"hgvs_p": null,
"transcript": "NM_001271581.3",
"protein_id": "NP_001258510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": -4,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20006,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "c.1764+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000680667.1",
"protein_id": "ENSP00000506452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19645,
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.*2151+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000650903.2",
"protein_id": "ENSP00000499038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 20933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.*1505+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000679491.1",
"protein_id": "ENSP00000505317.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
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"gene_symbol": "DNAJC10",
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"hgvs_c": "n.*1505+3992G>T",
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"transcript": "ENST00000679526.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
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"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.2896+3992G>T",
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"transcript": "ENST00000680060.1",
"protein_id": null,
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},
{
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"strand": true,
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],
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"exon_count": 25,
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"gene_symbol": "DNAJC10",
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"hgvs_c": "n.*2158+3992G>T",
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"transcript": "ENST00000680480.1",
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},
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"strand": true,
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],
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"gene_symbol": "DNAJC10",
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"hgvs_c": "n.*2180+3992G>T",
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"transcript": "ENST00000680484.1",
"protein_id": "ENSP00000505546.1",
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 12,
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"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.1464+3992G>T",
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},
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],
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"gene_symbol": "DNAJC10",
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"hgvs_c": "n.*2623+3992G>T",
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"transcript": "ENST00000681139.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 21,
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"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.*2020+3992G>T",
"hgvs_p": null,
"transcript": "ENST00000681146.1",
"protein_id": "ENSP00000505827.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 24,
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"gene_symbol": "DNAJC10",
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"hgvs_c": "n.*2289+3992G>T",
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"transcript": "ENST00000681873.1",
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},
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 23,
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"gene_symbol": "DNAJC10",
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"hgvs_c": "n.3552+3992G>T",
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},
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"hgvs_c": "n.2588+3992G>T",
"hgvs_p": null,
"transcript": "NR_073367.2",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAJC10",
"gene_hgnc_id": 24637,
"dbsnp": "rs288293",
"frequency_reference_population": 0.0000065853596,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658536,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0399999618530273,
"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": -1.04,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.112,
"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": "ENST00000264065.12",
"gene_symbol": "DNAJC10",
"hgnc_id": 24637,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2265+3992G>T",
"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
}