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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: 16-87731551-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=87731551&ref=T&alt=C&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": "KLHDC4",
"hgnc_id": 25272,
"hgvs_c": "c.507-907A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_017566.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 18144,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.94,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": null,
"cds_end": null,
"cds_length": 1563,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017566.4",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-907A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000270583.10",
"protein_coding": true,
"protein_id": "NP_060036.2",
"strand": false,
"transcript": "NM_017566.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": null,
"cds_end": null,
"cds_length": 1563,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000270583.10",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-907A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017566.4",
"protein_coding": true,
"protein_id": "ENSP00000270583.4",
"strand": false,
"transcript": "ENST00000270583.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 489,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": null,
"cds_end": null,
"cds_length": 1470,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347925.9",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-4627A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000325717.5",
"strand": false,
"transcript": "ENST00000347925.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353170.9",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.336-907A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262530.5",
"strand": false,
"transcript": "ENST00000353170.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1287,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316853.10",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "n.372-907A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000316853.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567298.5",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "n.507-907A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457570.1",
"strand": false,
"transcript": "ENST00000567298.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 522,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909877.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-907A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579936.1",
"strand": false,
"transcript": "ENST00000909877.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": null,
"cds_end": null,
"cds_length": 1563,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909874.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-907A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579933.1",
"strand": false,
"transcript": "ENST00000909874.1",
"transcript_support_level": null
},
{
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"aa_length": 520,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": null,
"cds_end": null,
"cds_length": 1563,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909875.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-907A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579934.1",
"strand": false,
"transcript": "ENST00000909875.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": null,
"cds_end": null,
"cds_length": 1563,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919680.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-907A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589739.1",
"strand": false,
"transcript": "ENST00000919680.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000968624.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-907A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638683.1",
"strand": false,
"transcript": "ENST00000968624.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000968625.1",
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"protein_id": "ENSP00000638684.1",
"strand": false,
"transcript": "ENST00000968625.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000968628.1",
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"strand": false,
"transcript": "ENST00000968628.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000968629.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.480-907A>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638688.1",
"strand": false,
"transcript": "ENST00000968629.1",
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},
{
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],
"exon_count": 11,
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"feature": "NM_001184856.2",
"gene_hgnc_id": 25272,
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"hgvs_c": "c.507-4627A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001171785.1",
"strand": false,
"transcript": "NM_001184856.2",
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},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000909876.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-4627A>G",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579935.1",
"strand": false,
"transcript": "ENST00000909876.1",
"transcript_support_level": null
},
{
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"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000909879.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.507-4627A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579938.1",
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"transcript": "ENST00000909879.1",
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},
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],
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"feature": "ENST00000919679.1",
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},
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"consequences": [
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],
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"feature": "ENST00000968630.1",
"gene_hgnc_id": 25272,
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"protein_id": "ENSP00000638689.1",
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},
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"consequences": [
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],
"exon_count": 10,
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"feature": "NM_001184854.2",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.336-907A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001171783.1",
"strand": false,
"transcript": "NM_001184854.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000919682.1",
"gene_hgnc_id": 25272,
"gene_symbol": "KLHDC4",
"hgvs_c": "c.336-907A>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589741.1",
"strand": false,
"transcript": "ENST00000919682.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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