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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: 2-112731678-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=112731678&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NT5DC4",
"hgnc_id": 27678,
"hgvs_c": "c.1344+1974C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001393655.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": null,
"cds_end": null,
"cds_length": 1368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393655.1",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1344+1974C>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000688554.1",
"protein_coding": true,
"protein_id": "NP_001380584.1",
"strand": true,
"transcript": "NM_001393655.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": null,
"cds_end": null,
"cds_length": 1368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688554.1",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1344+1974C>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393655.1",
"protein_coding": true,
"protein_id": "ENSP00000509504.1",
"strand": true,
"transcript": "ENST00000688554.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 428,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": null,
"cds_end": null,
"cds_length": 1287,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000327581.4",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1248+1974C>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330247.4",
"strand": true,
"transcript": "ENST00000327581.4",
"transcript_support_level": 1
},
{
"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": 1695,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690591.1",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1344+1974C>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508583.1",
"strand": true,
"transcript": "ENST00000690591.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 455,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": null,
"cds_end": null,
"cds_length": 1368,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000689550.1",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1215+1974C>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509747.1",
"strand": true,
"transcript": "ENST00000689550.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 428,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": null,
"cds_end": null,
"cds_length": 1287,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350494.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1248+1974C>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337423.1",
"strand": true,
"transcript": "NM_001350494.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024452799.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1551+1974C>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308567.1",
"strand": true,
"transcript": "XM_024452799.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 562,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": null,
"cds_end": null,
"cds_length": 1689,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512262.3",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1536+1974C>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510564.1",
"strand": true,
"transcript": "XM_011512262.3",
"transcript_support_level": null
},
{
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"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024452800.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1533+1974C>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308568.1",
"strand": true,
"transcript": "XM_024452800.2",
"transcript_support_level": null
},
{
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"aa_length": 556,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": null,
"cds_end": null,
"cds_length": 1671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005474.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1518+1974C>G",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860963.1",
"strand": true,
"transcript": "XM_017005474.2",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "XM_024452802.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1551+1974C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024308570.1",
"strand": true,
"transcript": "XM_024452802.2",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
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"feature": "XM_024452803.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1425+1974C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024308571.1",
"strand": true,
"transcript": "XM_024452803.2",
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},
{
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"biotype": "protein_coding",
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"protein_coding": true,
"protein_id": "XP_024308572.1",
"strand": true,
"transcript": "XM_024452804.2",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 16,
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"feature": "XM_024452805.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1552-1881C>G",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024308573.1",
"strand": true,
"transcript": "XM_024452805.2",
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},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "XM_017005475.1",
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"hgvs_c": "c.1518+1974C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016860964.1",
"strand": true,
"transcript": "XM_017005475.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 15,
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"feature": "XM_024452807.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1380+1974C>G",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024308575.1",
"strand": true,
"transcript": "XM_024452807.2",
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},
{
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"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "XM_017005476.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1344+1974C>G",
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"protein_coding": true,
"protein_id": "XP_016860965.1",
"strand": true,
"transcript": "XM_017005476.2",
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},
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"consequences": [
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],
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"feature": "XM_017005477.2",
"gene_hgnc_id": 27678,
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"strand": true,
"transcript": "XM_017005477.2",
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},
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"consequences": [
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],
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"feature": "XM_024452808.2",
"gene_hgnc_id": 27678,
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"protein_coding": true,
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"strand": true,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "XM_017005478.2",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.1215+1974C>G",
"hgvs_p": null,
"intron_rank": 16,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860967.1",
"strand": true,
"transcript": "XM_017005478.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1068,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512265.3",
"gene_hgnc_id": 27678,
"gene_symbol": "NT5DC4",
"hgvs_c": "c.915+1974C>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510567.1",
"strand": true,
"transcript": "XM_011512265.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
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