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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: 15-65513051-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65513051&ref=T&alt=A&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": "DPP8",
"hgnc_id": 16490,
"hgvs_c": "c.38-487A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_197960.4",
"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": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 882,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7281,
"cdna_start": null,
"cds_end": null,
"cds_length": 2649,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_130434.5",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300141.11",
"protein_coding": true,
"protein_id": "NP_569118.1",
"strand": false,
"transcript": "NM_130434.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 882,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7281,
"cdna_start": null,
"cds_end": null,
"cds_length": 2649,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000300141.11",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_130434.5",
"protein_coding": true,
"protein_id": "ENSP00000300141.6",
"strand": false,
"transcript": "ENST00000300141.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 847,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": null,
"cds_end": null,
"cds_length": 2544,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000321147.10",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.38-487A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318111.6",
"strand": false,
"transcript": "ENST00000321147.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 898,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7417,
"cdna_start": null,
"cds_end": null,
"cds_length": 2697,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320875.2",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.38-487A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307804.1",
"strand": false,
"transcript": "NM_001320875.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 898,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7282,
"cdna_start": null,
"cds_end": null,
"cds_length": 2697,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_197960.4",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.38-487A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_932064.1",
"strand": false,
"transcript": "NM_197960.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 898,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8699,
"cdna_start": null,
"cds_end": null,
"cds_length": 2697,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341861.9",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.38-487A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339208.5",
"strand": false,
"transcript": "ENST00000341861.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 898,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": null,
"cds_end": null,
"cds_length": 2697,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559233.5",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.38-487A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453954.1",
"strand": false,
"transcript": "ENST00000559233.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 892,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": null,
"cds_end": null,
"cds_length": 2679,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872750.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542809.1",
"strand": false,
"transcript": "ENST00000872750.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 887,
"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": 2664,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945908.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615967.1",
"strand": false,
"transcript": "ENST00000945908.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 882,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7386,
"cdna_start": null,
"cds_end": null,
"cds_length": 2649,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320876.2",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307805.1",
"strand": false,
"transcript": "NM_001320876.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872743.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542802.1",
"strand": false,
"transcript": "ENST00000872743.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": null,
"cds_end": null,
"cds_length": 2649,
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"consequences": [
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],
"exon_count": 22,
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"feature": "ENST00000945898.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615957.1",
"strand": false,
"transcript": "ENST00000945898.1",
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},
{
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],
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"feature": "ENST00000872747.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542806.1",
"strand": false,
"transcript": "ENST00000872747.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000872761.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542820.1",
"strand": false,
"transcript": "ENST00000872761.1",
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},
{
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],
"exon_count": 20,
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"feature": "ENST00000945902.1",
"gene_hgnc_id": 16490,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615961.1",
"strand": false,
"transcript": "ENST00000945902.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000872741.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542800.1",
"strand": false,
"transcript": "ENST00000872741.1",
"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": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872746.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542805.1",
"strand": false,
"transcript": "ENST00000872746.1",
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},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "NM_001438667.1",
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"protein_id": "NP_001425596.1",
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"transcript_support_level": null
},
{
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],
"exon_count": 20,
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"feature": "NM_197961.4",
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"protein_coding": true,
"protein_id": "NP_932065.1",
"strand": false,
"transcript": "NM_197961.4",
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},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000872742.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542801.1",
"strand": false,
"transcript": "ENST00000872742.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": null,
"cds_end": null,
"cds_length": 2526,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872756.1",
"gene_hgnc_id": 16490,
"gene_symbol": "DPP8",
"hgvs_c": "c.-11-487A>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542815.1",
"strand": false,
"transcript": "ENST00000872756.1",
"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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