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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: 16-70143745-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70143745&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70143745,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000288050.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1754+87G>T",
"hgvs_p": null,
"transcript": "NM_017990.5",
"protein_id": "NP_060460.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": -4,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": "ENST00000288050.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1754+87G>T",
"hgvs_p": null,
"transcript": "ENST00000288050.9",
"protein_id": "ENSP00000288050.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": -4,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": "NM_017990.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1754+87G>T",
"hgvs_p": null,
"transcript": "ENST00000568530.5",
"protein_id": "ENSP00000457916.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": -4,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000247228",
"gene_hgnc_id": null,
"hgvs_c": "n.106C>A",
"hgvs_p": null,
"transcript": "ENST00000770898.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1754+87G>T",
"hgvs_p": null,
"transcript": "NM_001322117.1",
"protein_id": "NP_001309046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": -4,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1454+87G>T",
"hgvs_p": null,
"transcript": "NM_001322118.1",
"protein_id": "NP_001309047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1454+87G>T",
"hgvs_p": null,
"transcript": "ENST00000398122.7",
"protein_id": "ENSP00000381190.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.548+87G>T",
"hgvs_p": null,
"transcript": "NM_001322119.1",
"protein_id": "NP_001309048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "n.1858+87G>T",
"hgvs_p": null,
"transcript": "ENST00000561920.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "n.960+87G>T",
"hgvs_p": null,
"transcript": "ENST00000562100.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "n.*360+87G>T",
"hgvs_p": null,
"transcript": "ENST00000565186.5",
"protein_id": "ENSP00000455764.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000247228",
"gene_hgnc_id": null,
"hgvs_c": "n.892-4509C>A",
"hgvs_p": null,
"transcript": "ENST00000671539.1",
"protein_id": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1754+87G>T",
"hgvs_p": null,
"transcript": "XM_005256015.3",
"protein_id": "XP_005256072.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "PDPR",
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"hgvs_c": "c.1754+87G>T",
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"transcript": "XM_005256016.4",
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},
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],
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"gene_symbol": "PDPR",
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"transcript": "XM_047434302.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1754+87G>T",
"hgvs_p": null,
"transcript": "XM_006721224.3",
"protein_id": "XP_006721287.1",
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},
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],
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"gene_symbol": "PDPR",
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"hgvs_c": "c.1754+87G>T",
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"transcript": "XM_047434303.1",
"protein_id": "XP_047290259.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "PDPR",
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"hgvs_c": "c.1514+87G>T",
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"transcript": "XM_006721225.4",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 12,
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"gene_symbol": "PDPR",
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"hgvs_c": "c.1514+87G>T",
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"transcript": "XM_047434304.1",
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},
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PDPR",
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"hgvs_c": "c.1514+87G>T",
"hgvs_p": null,
"transcript": "XM_047434307.1",
"protein_id": "XP_047290263.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PDPR",
"gene_hgnc_id": 30264,
"hgvs_c": "c.1754+87G>T",
"hgvs_p": null,
"transcript": "XM_017023388.3",
"protein_id": "XP_016878877.1",
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},
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{
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "ENST00000288050.9",
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"effects": [
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{
"score": -2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000770898.1",
"gene_symbol": "ENSG00000247228",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.106C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}