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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: 3-184358992-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184358992&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLCN2",
"hgnc_id": 2020,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_004366.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1692,
"alphamissense_prediction": null,
"alphamissense_score": 0.1109,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Leukoencephalopathy with mild cerebellar ataxia and white matter edema,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008187860250473022,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 898,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2697,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004366.6",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265593.9",
"protein_coding": true,
"protein_id": "NP_004357.3",
"strand": false,
"transcript": "NM_004366.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 898,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2697,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000265593.9",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004366.6",
"protein_coding": true,
"protein_id": "ENSP00000265593.4",
"strand": false,
"transcript": "ENST00000265593.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 326,
"cds_end": null,
"cds_length": 2646,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000344937.11",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345056.7",
"strand": false,
"transcript": "ENST00000344937.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 937,
"aa_ref": "R",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2814,
"cds_start": 320,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938001.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608060.1",
"strand": false,
"transcript": "ENST00000938001.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2694,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881270.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551329.1",
"strand": false,
"transcript": "ENST00000881270.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 896,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 303,
"cds_end": null,
"cds_length": 2691,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881273.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551332.1",
"strand": false,
"transcript": "ENST00000881273.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 884,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 366,
"cds_end": null,
"cds_length": 2655,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881268.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551327.1",
"strand": false,
"transcript": "ENST00000881268.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2646,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171087.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164558.1",
"strand": false,
"transcript": "NM_001171087.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 880,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 328,
"cds_end": null,
"cds_length": 2643,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962393.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632452.1",
"strand": false,
"transcript": "ENST00000962393.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 872,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3199,
"cdna_start": 372,
"cds_end": null,
"cds_length": 2619,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962392.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632451.1",
"strand": false,
"transcript": "ENST00000962392.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 869,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2610,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171089.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164560.1",
"strand": false,
"transcript": "NM_001171089.3",
"transcript_support_level": null
},
{
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"aa_length": 869,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 327,
"cds_end": null,
"cds_length": 2610,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
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"feature": "ENST00000457512.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391928.1",
"strand": false,
"transcript": "ENST00000457512.1",
"transcript_support_level": 2
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 329,
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"consequences": [
"missense_variant"
],
"exon_count": 24,
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"feature": "ENST00000881271.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551330.1",
"strand": false,
"transcript": "ENST00000881271.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 370,
"cds_end": null,
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"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881267.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551326.1",
"strand": false,
"transcript": "ENST00000881267.1",
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},
{
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"cds_end": null,
"cds_length": 2565,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171088.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164559.1",
"strand": false,
"transcript": "NM_001171088.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 327,
"cds_end": null,
"cds_length": 2565,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000434054.6",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400425.2",
"strand": false,
"transcript": "ENST00000434054.6",
"transcript_support_level": 2
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 375,
"cds_end": null,
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"consequences": [
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],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962391.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
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"protein_coding": true,
"protein_id": "ENSP00000632450.1",
"strand": false,
"transcript": "ENST00000962391.1",
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},
{
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"consequences": [
"missense_variant"
],
"exon_count": 22,
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"exon_rank_end": null,
"feature": "ENST00000881269.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551328.1",
"strand": false,
"transcript": "ENST00000881269.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
"missense_variant"
],
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"exon_rank": 2,
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"feature": "ENST00000881272.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551331.1",
"strand": false,
"transcript": "ENST00000881272.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 464,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1395,
"cdna_start": 116,
"cds_end": null,
"cds_length": 1395,
"cds_start": 116,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000636492.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490313.1",
"strand": false,
"transcript": "ENST00000636492.1",
"transcript_support_level": 5
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2592,
"cds_start": 203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006713489.2",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68His",
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