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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: 14-77931105-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77931105&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ADCK1",
"hgnc_id": 19038,
"hgvs_c": "c.1378-413A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001366487.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 21654,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020421.4",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1207-413A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000238561.10",
"protein_coding": true,
"protein_id": "NP_065154.2",
"strand": true,
"transcript": "NM_020421.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000238561.10",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1207-413A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020421.4",
"protein_coding": true,
"protein_id": "ENSP00000238561.5",
"strand": true,
"transcript": "ENST00000238561.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 604,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": null,
"cds_end": null,
"cds_length": 1815,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951873.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1450-413A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621932.1",
"strand": true,
"transcript": "ENST00000951873.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 580,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": null,
"cds_end": null,
"cds_length": 1743,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366487.2",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1378-413A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353416.1",
"strand": true,
"transcript": "NM_001366487.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 580,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": null,
"cds_end": null,
"cds_length": 1743,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951875.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1378-413A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621934.1",
"strand": true,
"transcript": "ENST00000951875.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 514,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": null,
"cds_end": null,
"cds_length": 1545,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936818.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1180-413A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606877.1",
"strand": true,
"transcript": "ENST00000936818.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 508,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": null,
"cds_end": null,
"cds_length": 1527,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936824.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1162-413A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606883.1",
"strand": true,
"transcript": "ENST00000936824.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936820.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1132-413A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606879.1",
"strand": true,
"transcript": "ENST00000936820.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 484,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": null,
"cds_end": null,
"cds_length": 1455,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366485.2",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1090-413A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353414.1",
"strand": true,
"transcript": "NM_001366485.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": null,
"cds_end": null,
"cds_length": 1413,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366489.2",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1048-413A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353418.1",
"strand": true,
"transcript": "NM_001366489.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1413,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878181.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1048-413A>G",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548240.1",
"strand": true,
"transcript": "ENST00000878181.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000878182.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548241.1",
"strand": true,
"transcript": "ENST00000878182.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001366486.2",
"gene_hgnc_id": 19038,
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"protein_coding": true,
"protein_id": "NP_001353415.1",
"strand": true,
"transcript": "NM_001366486.2",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000878179.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1009-413A>G",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548238.1",
"strand": true,
"transcript": "ENST00000878179.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "NM_001142545.2",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001136017.1",
"strand": true,
"transcript": "NM_001142545.2",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000341211.5",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.1003-413A>G",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000339663.5",
"strand": true,
"transcript": "ENST00000341211.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1296,
"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936823.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.931-413A>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000606882.1",
"strand": true,
"transcript": "ENST00000936823.1",
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},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001366488.2",
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"hgvs_c": "c.892-413A>G",
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"protein_id": "NP_001353417.1",
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"transcript": "NM_001366488.2",
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},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000936822.1",
"gene_hgnc_id": 19038,
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"protein_coding": true,
"protein_id": "ENSP00000606881.1",
"strand": true,
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
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"exon_rank_end": null,
"feature": "ENST00000936815.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.859-413A>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606874.1",
"strand": true,
"transcript": "ENST00000936815.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1215,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936825.1",
"gene_hgnc_id": 19038,
"gene_symbol": "ADCK1",
"hgvs_c": "c.850-413A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606884.1",
"strand": true,
"transcript": "ENST00000936825.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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