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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: 1-155202588-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155202588&ref=A&alt=G&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": "THBS3",
"hgnc_id": 11787,
"hgvs_c": "c.1129-187T>C",
"hgvs_p": null,
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001407490.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "THBS3-AS1",
"hgnc_id": 40582,
"hgvs_c": "n.978+1762A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000422665.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 63262,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 956,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": null,
"cds_end": null,
"cds_length": 2871,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007112.5",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.958-187T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368378.7",
"protein_coding": true,
"protein_id": "NP_009043.1",
"strand": false,
"transcript": "NM_007112.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 956,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": null,
"cds_end": null,
"cds_length": 2871,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368378.7",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.958-187T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007112.5",
"protein_coding": true,
"protein_id": "ENSP00000357362.3",
"strand": false,
"transcript": "ENST00000368378.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 947,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": null,
"cds_end": null,
"cds_length": 2844,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541576.5",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.931-187T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444792.2",
"strand": false,
"transcript": "ENST00000541576.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 485,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": null,
"cds_end": null,
"cds_length": 1458,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541990.5",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.-536-187T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437353.1",
"strand": false,
"transcript": "ENST00000541990.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1013,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": null,
"cds_end": null,
"cds_length": 3042,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407490.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.1129-187T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394419.1",
"strand": false,
"transcript": "NM_001407490.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 959,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": null,
"cds_end": null,
"cds_length": 2880,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407487.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.958-187T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394416.1",
"strand": false,
"transcript": "NM_001407487.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 959,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": null,
"cds_end": null,
"cds_length": 2880,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902275.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.958-187T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572334.1",
"strand": false,
"transcript": "ENST00000902275.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 954,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": null,
"cds_end": null,
"cds_length": 2865,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902272.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.958-187T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572331.1",
"strand": false,
"transcript": "ENST00000902272.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3118,
"cdna_start": null,
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"cds_length": 2844,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001252607.2",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.931-187T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001239536.1",
"strand": false,
"transcript": "NM_001252607.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
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"feature": "NM_001407554.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001394483.1",
"strand": false,
"transcript": "NM_001407554.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000960680.1",
"gene_hgnc_id": 11787,
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},
{
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"consequences": [
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],
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"feature": "NM_001407555.1",
"gene_hgnc_id": 11787,
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"mane_plus": null,
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},
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],
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"feature": "ENST00000902273.1",
"gene_hgnc_id": 11787,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000572332.1",
"strand": false,
"transcript": "ENST00000902273.1",
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},
{
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],
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"feature": "NM_001407556.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
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"protein_coding": true,
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},
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],
"exon_count": 24,
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"feature": "NM_001407557.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.844-187T>C",
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"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001394486.1",
"strand": false,
"transcript": "NM_001407557.1",
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},
{
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"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "NM_001407488.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001394417.1",
"strand": false,
"transcript": "NM_001407488.1",
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},
{
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],
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"feature": "ENST00000960681.1",
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},
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"feature": "NM_001407558.1",
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"protein_id": "NP_001394487.1",
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},
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],
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"feature": "ENST00000960679.1",
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000960679.1",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 21,
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"feature": "ENST00000902274.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.958-187T>C",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000572333.1",
"strand": false,
"transcript": "ENST00000902274.1",
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},
{
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"biotype": "protein_coding",
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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": "NM_001252608.2",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.598-187T>C",
"hgvs_p": null,
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