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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: 1-149002894-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=149002894&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PDE4DIP",
"hgnc_id": 15580,
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Ala1369Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001395297.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2412,
"aa_ref": "A",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8617,
"cdna_start": 4163,
"cds_end": null,
"cds_length": 7239,
"cds_start": 3816,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001395426.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3816G>A",
"hgvs_p": "p.Ala1272Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695795.1",
"protein_coding": true,
"protein_id": "NP_001382355.1",
"strand": true,
"transcript": "NM_001395426.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2412,
"aa_ref": "A",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8617,
"cdna_start": 4163,
"cds_end": null,
"cds_length": 7239,
"cds_start": 3816,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000695795.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3816G>A",
"hgvs_p": "p.Ala1272Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395426.1",
"protein_coding": true,
"protein_id": "ENSP00000512175.1",
"strand": true,
"transcript": "ENST00000695795.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2362,
"aa_ref": "A",
"aa_start": 1206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8307,
"cdna_start": 3909,
"cds_end": null,
"cds_length": 7089,
"cds_start": 3618,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000369356.8",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3618G>A",
"hgvs_p": "p.Ala1206Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358363.4",
"strand": true,
"transcript": "ENST00000369356.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2346,
"aa_ref": "A",
"aa_start": 1206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8262,
"cdna_start": 3808,
"cds_end": null,
"cds_length": 7041,
"cds_start": 3618,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000369354.7",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3618G>A",
"hgvs_p": "p.Ala1206Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358360.3",
"strand": true,
"transcript": "ENST00000369354.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2240,
"aa_ref": "A",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8150,
"cdna_start": 3879,
"cds_end": null,
"cds_length": 6723,
"cds_start": 3486,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000618462.4",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3486G>A",
"hgvs_p": "p.Ala1162Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479409.1",
"strand": true,
"transcript": "ENST00000618462.4",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2525,
"aa_ref": "A",
"aa_start": 1369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8912,
"cdna_start": 4514,
"cds_end": null,
"cds_length": 7578,
"cds_start": 4107,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001395297.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Ala1369Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382226.1",
"strand": true,
"transcript": "NM_001395297.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2508,
"aa_ref": "A",
"aa_start": 1369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8965,
"cdna_start": 4514,
"cds_end": null,
"cds_length": 7527,
"cds_start": 4107,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001350520.2",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Ala1369Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337449.1",
"strand": true,
"transcript": "NM_001350520.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2508,
"aa_ref": "A",
"aa_start": 1369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9377,
"cdna_start": 4935,
"cds_end": null,
"cds_length": 7527,
"cds_start": 4107,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000704840.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Ala1369Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516056.1",
"strand": true,
"transcript": "ENST00000704840.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2483,
"aa_ref": "A",
"aa_start": 1343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8554,
"cdna_start": 4100,
"cds_end": null,
"cds_length": 7452,
"cds_start": 4029,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001377392.2",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4029G>A",
"hgvs_p": "p.Ala1343Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364321.1",
"strand": true,
"transcript": "NM_001377392.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2483,
"aa_ref": "A",
"aa_start": 1343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8554,
"cdna_start": 4100,
"cds_end": null,
"cds_length": 7452,
"cds_start": 4029,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000695794.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4029G>A",
"hgvs_p": "p.Ala1343Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512174.1",
"strand": true,
"transcript": "ENST00000695794.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2482,
"aa_ref": "A",
"aa_start": 1343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8551,
"cdna_start": 4100,
"cds_end": null,
"cds_length": 7449,
"cds_start": 4029,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001395298.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4029G>A",
"hgvs_p": "p.Ala1343Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382227.1",
"strand": true,
"transcript": "NM_001395298.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 2482,
"aa_ref": "A",
"aa_start": 1343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8439,
"cdna_start": 4049,
"cds_end": null,
"cds_length": 7449,
"cds_start": 4029,
"consequences": [
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],
"exon_count": 47,
"exon_rank": 28,
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"feature": "ENST00000585156.5",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4029G>A",
"hgvs_p": "p.Ala1343Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462316.2",
"strand": true,
"transcript": "ENST00000585156.5",
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},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4514,
"cds_end": null,
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"consequences": [
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],
"exon_count": 39,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001395299.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Ala1369Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382228.1",
"strand": true,
"transcript": "NM_001395299.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 2460,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8381,
"cdna_start": 4100,
"cds_end": null,
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"cds_start": 4029,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001350521.4",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4029G>A",
"hgvs_p": "p.Ala1343Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337450.1",
"strand": true,
"transcript": "NM_001350521.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8443,
"cdna_start": 3989,
"cds_end": null,
"cds_length": 7341,
"cds_start": 3918,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001395300.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3918G>A",
"hgvs_p": "p.Ala1306Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382229.1",
"strand": true,
"transcript": "NM_001395300.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8305,
"cdna_start": 4068,
"cds_end": null,
"cds_length": 7296,
"cds_start": 4029,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000524974.5",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4029G>A",
"hgvs_p": "p.Ala1343Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480806.1",
"strand": true,
"transcript": "ENST00000524974.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 39,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001395301.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.4107G>A",
"hgvs_p": "p.Ala1369Ala",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001382230.1",
"strand": true,
"transcript": "NM_001395301.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 3989,
"cds_end": null,
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"cds_start": 3918,
"consequences": [
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],
"exon_count": 45,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001395302.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3918G>A",
"hgvs_p": "p.Ala1306Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382231.1",
"strand": true,
"transcript": "NM_001395302.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"synonymous_variant"
],
"exon_count": 45,
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"exon_rank_end": null,
"feature": "ENST00000695768.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3918G>A",
"hgvs_p": "p.Ala1306Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512160.1",
"strand": true,
"transcript": "ENST00000695768.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 2372,
"aa_ref": "A",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8221,
"cdna_start": 3770,
"cds_end": null,
"cds_length": 7119,
"cds_start": 3699,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001395303.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.3699G>A",
"hgvs_p": "p.Ala1233Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382232.1",
"strand": true,
"transcript": "NM_001395303.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2366,
"aa_ref": "A",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8294,
"cdna_start": 4082,
"cds_end": null,
"cds_length": 7101,
"cds_start": 3816,
"consequences": [
"synonymous_variant"
],
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