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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: 13-75760682-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75760682&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "LMO7",
"hgnc_id": 6646,
"hgvs_c": "c.-739C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015842.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000261553",
"hgnc_id": null,
"hgvs_c": "n.846-250C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000563635.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5580,
"cdna_start": null,
"cds_end": null,
"cds_length": 4158,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000465261.6",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-739C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433352.1",
"strand": true,
"transcript": "ENST00000465261.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7147,
"cdna_start": null,
"cds_end": null,
"cds_length": 4896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001306080.2",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.211-250C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377534.8",
"protein_coding": true,
"protein_id": "NP_001293009.1",
"strand": true,
"transcript": "NM_001306080.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7147,
"cdna_start": null,
"cds_end": null,
"cds_length": 4896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377534.8",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.211-250C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001306080.2",
"protein_coding": true,
"protein_id": "ENSP00000366757.4",
"strand": true,
"transcript": "ENST00000377534.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7237,
"cdna_start": null,
"cds_end": null,
"cds_length": 4050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341547.8",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.367-250C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342112.4",
"strand": true,
"transcript": "ENST00000341547.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": null,
"cds_end": null,
"cds_length": 4158,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015842.2",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-739C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056667.2",
"strand": true,
"transcript": "NM_015842.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1275,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": null,
"cds_end": null,
"cds_length": 3828,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000526202.5",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-57C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431129.1",
"strand": true,
"transcript": "ENST00000526202.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1062,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5876,
"cdna_start": null,
"cds_end": null,
"cds_length": 3189,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047430353.1",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-739C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286309.1",
"strand": true,
"transcript": "XM_047430353.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1668,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8237,
"cdna_start": null,
"cds_end": null,
"cds_length": 5007,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357063.7",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.322-250C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349571.4",
"strand": true,
"transcript": "ENST00000357063.7",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 1645,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7189,
"cdna_start": null,
"cds_end": null,
"cds_length": 4938,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000715261.1",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.211-250C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520431.1",
"strand": true,
"transcript": "ENST00000715261.1",
"transcript_support_level": null
},
{
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"aa_length": 1576,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6610,
"cdna_start": null,
"cds_end": null,
"cds_length": 4731,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366633.2",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.85-250C>G",
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"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353562.1",
"strand": true,
"transcript": "NM_001366633.2",
"transcript_support_level": null
},
{
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"aa_length": 1398,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6858,
"cdna_start": null,
"cds_end": null,
"cds_length": 4197,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
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"feature": "NM_001330583.1",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-490+17C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001317512.1",
"strand": true,
"transcript": "NM_001330583.1",
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},
{
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"aa_ref": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000321797.12",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000317802.8",
"strand": true,
"transcript": "ENST00000321797.12",
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},
{
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"consequences": [
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],
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"feature": "ENST00000605961.2",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-490+17C>G",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000513106.1",
"strand": true,
"transcript": "ENST00000605961.2",
"transcript_support_level": 6
},
{
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"consequences": [
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],
"exon_count": 28,
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"feature": "NM_001366632.2",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-490+17C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001353561.1",
"strand": true,
"transcript": "NM_001366632.2",
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},
{
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"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "NM_005358.5",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.367-250C>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005349.3",
"strand": true,
"transcript": "NM_005358.5",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 29,
"exon_rank": null,
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"feature": "ENST00000891628.1",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.211-250C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561687.1",
"strand": true,
"transcript": "ENST00000891628.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 29,
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"feature": "ENST00000891625.1",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.211-250C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000561684.1",
"strand": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000891627.1",
"gene_hgnc_id": 6646,
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"hgvs_c": "c.211-250C>G",
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"protein_coding": true,
"protein_id": "ENSP00000561686.1",
"strand": true,
"transcript": "ENST00000891627.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000525107.7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000435296.3",
"strand": true,
"transcript": "ENST00000525107.7",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3915,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366634.2",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-490+123C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353563.1",
"strand": true,
"transcript": "NM_001366634.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3915,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366636.2",
"gene_hgnc_id": 6646,
"gene_symbol": "LMO7",
"hgvs_c": "c.-490+17C>G",
"hgvs_p": null,
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