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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: 1-231563728-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=231563728&ref=G&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": "TSNAX",
"hgnc_id": 12380,
"hgvs_c": "c.496-800G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005999.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TSNAX-DISC1",
"hgnc_id": 49177,
"hgvs_c": "n.495+2473G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000602956.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 14268,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005999.3",
"gene_hgnc_id": 12380,
"gene_symbol": "TSNAX",
"hgvs_c": "c.496-800G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366639.9",
"protein_coding": true,
"protein_id": "NP_005990.1",
"strand": true,
"transcript": "NM_005999.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366639.9",
"gene_hgnc_id": 12380,
"gene_symbol": "TSNAX",
"hgvs_c": "c.496-800G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005999.3",
"protein_coding": true,
"protein_id": "ENSP00000355599.3",
"strand": true,
"transcript": "ENST00000366639.9",
"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": 3294,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602956.5",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.495+2473G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473532.1",
"strand": true,
"transcript": "ENST00000602956.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": null,
"cds_end": null,
"cds_length": 918,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947977.1",
"gene_hgnc_id": 12380,
"gene_symbol": "TSNAX",
"hgvs_c": "c.541-800G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618036.1",
"strand": true,
"transcript": "ENST00000947977.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": null,
"cds_end": null,
"cds_length": 897,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947979.1",
"gene_hgnc_id": 12380,
"gene_symbol": "TSNAX",
"hgvs_c": "c.520-800G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618038.1",
"strand": true,
"transcript": "ENST00000947979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 288,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": null,
"cds_end": null,
"cds_length": 867,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903833.1",
"gene_hgnc_id": 12380,
"gene_symbol": "TSNAX",
"hgvs_c": "c.490-800G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573892.1",
"strand": true,
"transcript": "ENST00000903833.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": null,
"cds_end": null,
"cds_length": 855,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947978.1",
"gene_hgnc_id": 12380,
"gene_symbol": "TSNAX",
"hgvs_c": "c.496-818G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618037.1",
"strand": true,
"transcript": "ENST00000947978.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903834.1",
"gene_hgnc_id": 12380,
"gene_symbol": "TSNAX",
"hgvs_c": "c.391-800G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573893.1",
"strand": true,
"transcript": "ENST00000903834.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5629,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475168.1",
"gene_hgnc_id": 12380,
"gene_symbol": "TSNAX",
"hgvs_c": "n.3632+99G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000475168.1",
"transcript_support_level": 2
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602567.1",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.495+2473G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473456.1",
"strand": true,
"transcript": "ENST00000602567.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3429,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602634.5",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.367+21117G>C",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000473307.1",
"strand": true,
"transcript": "ENST00000602634.5",
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},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000602885.5",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.*126+2473G>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000473476.1",
"strand": true,
"transcript": "ENST00000602885.5",
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},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000602962.5",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.495+2473G>C",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473367.1",
"strand": true,
"transcript": "ENST00000602962.5",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000644515.1",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.367+21117G>C",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000496433.1",
"strand": true,
"transcript": "ENST00000644515.1",
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},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000646525.1",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.367+21117G>C",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000494923.1",
"strand": true,
"transcript": "ENST00000646525.1",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
"cdna_length": 2569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647072.1",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.367+21117G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493799.1",
"strand": true,
"transcript": "ENST00000647072.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 16,
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"feature": "NR_028393.1",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.525+21117G>C",
"hgvs_p": null,
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},
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"consequences": [
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],
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"exon_rank": null,
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"feature": "NR_028394.1",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
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"strand": true,
"transcript": "NR_028394.1",
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},
{
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"consequences": [
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],
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"feature": "NR_028395.1",
"gene_hgnc_id": 49177,
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"hgvs_c": "n.653+2473G>C",
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "NR_028395.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_028396.1",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.525+21117G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_028396.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "NR_028397.1",
"gene_hgnc_id": 49177,
"gene_symbol": "TSNAX-DISC1",
"hgvs_c": "n.653+2473G>C",
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