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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: 21-46497082-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46497082&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DIP2A",
"hgnc_id": 17217,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001410751.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 799,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "21",
"clinvar_classification": "Likely benign",
"clinvar_disease": "DIP2A-related disorder,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7350,
"cdna_start": 619,
"cds_end": null,
"cds_length": 4716,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015151.4",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000417564.3",
"protein_coding": true,
"protein_id": "NP_055966.2",
"strand": true,
"transcript": "NM_015151.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7350,
"cdna_start": 619,
"cds_end": null,
"cds_length": 4716,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000417564.3",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015151.4",
"protein_coding": true,
"protein_id": "ENSP00000392066.2",
"strand": true,
"transcript": "ENST00000417564.3",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 889,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 560,
"cds_end": null,
"cds_length": 2670,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000457905.7",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393434.3",
"strand": true,
"transcript": "ENST00000457905.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 798,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 533,
"cds_end": null,
"cds_length": 2397,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000466639.5",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430249.1",
"strand": true,
"transcript": "ENST00000466639.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1614,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6938,
"cdna_start": 387,
"cds_end": null,
"cds_length": 4845,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960785.1",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630844.1",
"strand": true,
"transcript": "ENST00000960785.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1604,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6902,
"cdna_start": 619,
"cds_end": null,
"cds_length": 4815,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960786.1",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630845.1",
"strand": true,
"transcript": "ENST00000960786.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7380,
"cdna_start": 619,
"cds_end": null,
"cds_length": 4746,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410751.1",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397680.1",
"strand": true,
"transcript": "NM_001410751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6946,
"cdna_start": 615,
"cds_end": null,
"cds_length": 4746,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000651436.1",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498874.1",
"strand": true,
"transcript": "ENST00000651436.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1572,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7353,
"cdna_start": 619,
"cds_end": null,
"cds_length": 4719,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001353942.2",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340871.1",
"strand": true,
"transcript": "NM_001353942.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1572,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7039,
"cdna_start": 615,
"cds_end": null,
"cds_length": 4719,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874257.1",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544316.1",
"strand": true,
"transcript": "ENST00000874257.1",
"transcript_support_level": null
},
{
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"aa_length": 1571,
"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": 619,
"cds_end": null,
"cds_length": 4716,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 4,
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"feature": "NM_001353943.2",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340872.1",
"strand": true,
"transcript": "NM_001353943.2",
"transcript_support_level": null
},
{
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"aa_length": 1567,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 7338,
"cdna_start": 619,
"cds_end": null,
"cds_length": 4704,
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"consequences": [
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],
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"feature": "NM_001146116.2",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001139588.1",
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"transcript": "NM_001146116.2",
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},
{
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"consequences": [
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],
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"feature": "ENST00000400274.5",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383133.1",
"strand": true,
"transcript": "ENST00000400274.5",
"transcript_support_level": 5
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 38,
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"feature": "ENST00000960787.1",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630846.1",
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"transcript": "ENST00000960787.1",
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},
{
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],
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"feature": "ENST00000931212.1",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000601271.1",
"strand": true,
"transcript": "ENST00000931212.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 485,
"cds_end": null,
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"consequences": [
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],
"exon_count": 35,
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"exon_rank_end": null,
"feature": "ENST00000931213.1",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601272.1",
"strand": true,
"transcript": "ENST00000931213.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000960783.1",
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"protein_coding": true,
"protein_id": "ENSP00000630842.1",
"strand": true,
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},
{
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],
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"feature": "ENST00000960784.1",
"gene_hgnc_id": 17217,
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"hgvs_c": "c.378G>A",
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"protein_id": "ENSP00000630843.1",
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},
{
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"consequences": [
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],
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"feature": "NM_206889.3",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_996772.1",
"strand": true,
"transcript": "NM_206889.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 619,
"cds_end": null,
"cds_length": 2526,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_206890.3",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ser126Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996773.1",
"strand": true,
"transcript": "NM_206890.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "S",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 453,
"cds_end": null,
"cds_length": 2526,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000435722.7",
"gene_hgnc_id": 17217,
"gene_symbol": "DIP2A",
"hgvs_c": "c.378G>A",
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{
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],
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}
]
}