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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: Y-14608133-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=Y&pos=14608133&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NLGN4Y",
"hgnc_id": 15529,
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"inheritance_mode": "YL",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001365584.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "Y",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7194,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365588.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684976.1",
"protein_coding": true,
"protein_id": "NP_001352517.1",
"strand": true,
"transcript": "NM_001365588.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7194,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684976.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365588.1",
"protein_coding": true,
"protein_id": "ENSP00000510011.1",
"strand": true,
"transcript": "ENST00000684976.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 873,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5338,
"cdna_start": null,
"cds_end": null,
"cds_length": 2622,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382868.5",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-99-13888T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372320.1",
"strand": true,
"transcript": "ENST00000382868.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 816,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5310,
"cdna_start": null,
"cds_end": null,
"cds_length": 2451,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000339174.9",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342535.5",
"strand": true,
"transcript": "ENST00000339174.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 816,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5167,
"cdna_start": null,
"cds_end": null,
"cds_length": 2451,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355905.6",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-99-13888T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348169.2",
"strand": true,
"transcript": "ENST00000355905.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 648,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6617,
"cdna_start": null,
"cds_end": null,
"cds_length": 1947,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382872.5",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-93+85192T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372325.1",
"strand": true,
"transcript": "ENST00000382872.5",
"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": 5460,
"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": "ENST00000476359.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "n.154-13888T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000476359.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 848,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6576,
"cdna_start": null,
"cds_end": null,
"cds_length": 2547,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926508.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596567.1",
"strand": true,
"transcript": "ENST00000926508.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 848,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4475,
"cdna_start": null,
"cds_end": null,
"cds_length": 2547,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926513.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596572.1",
"strand": true,
"transcript": "ENST00000926513.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 848,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5769,
"cdna_start": null,
"cds_end": null,
"cds_length": 2547,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926516.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596575.1",
"strand": true,
"transcript": "ENST00000926516.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7422,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365584.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352513.1",
"strand": true,
"transcript": "NM_001365584.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7340,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365586.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352515.1",
"strand": true,
"transcript": "NM_001365586.1",
"transcript_support_level": null
},
{
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"aa_length": 836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7971,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "NM_001394830.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381759.1",
"strand": true,
"transcript": "NM_001394830.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7368,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643089.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496594.1",
"strand": true,
"transcript": "ENST00000643089.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5723,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877962.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548021.1",
"strand": true,
"transcript": "ENST00000877962.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 836,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5262,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877963.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-112+2768T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548022.1",
"strand": true,
"transcript": "ENST00000877963.1",
"transcript_support_level": null
},
{
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"aa_length": 836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877964.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548023.1",
"strand": true,
"transcript": "ENST00000877964.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3812,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000877965.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548024.1",
"strand": true,
"transcript": "ENST00000877965.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_length": 5759,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926509.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596568.1",
"strand": true,
"transcript": "ENST00000926509.1",
"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,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926510.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596569.1",
"strand": true,
"transcript": "ENST00000926510.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5628,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926511.1",
"gene_hgnc_id": 15529,
"gene_symbol": "NLGN4Y",
"hgvs_c": "c.-111-13876T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596570.1",
"strand": true,
"transcript": "ENST00000926511.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 836,
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