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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: 17-27623194-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=27623194&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 27623194,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000644974.2",
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2709-120G>A",
"hgvs_p": null,
"transcript": "NM_001394583.1",
"protein_id": "NP_001381512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": -4,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "ENST00000644974.2",
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2709-120G>A",
"hgvs_p": null,
"transcript": "ENST00000644974.2",
"protein_id": "ENSP00000494552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": -4,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "NM_001394583.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.*1259G>A",
"hgvs_p": null,
"transcript": "NM_014238.2",
"protein_id": "NP_055053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": -4,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.*1259G>A",
"hgvs_p": null,
"transcript": "ENST00000398988.7",
"protein_id": "ENSP00000381958.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": -4,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.*1259G>A",
"hgvs_p": null,
"transcript": "ENST00000582410.5",
"protein_id": "ENSP00000464680.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2392,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2628-120G>A",
"hgvs_p": null,
"transcript": "NM_001367810.1",
"protein_id": "NP_001354739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 901,
"cds_start": -4,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5945,
"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": 18,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2412-120G>A",
"hgvs_p": null,
"transcript": "ENST00000644418.1",
"protein_id": "ENSP00000494039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": -4,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5599,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.1620-120G>A",
"hgvs_p": null,
"transcript": "NM_001394584.1",
"protein_id": "NP_001381513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5491,
"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": 16,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.1578-120G>A",
"hgvs_p": null,
"transcript": "NM_001394585.1",
"protein_id": "NP_001381514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5449,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.342-120G>A",
"hgvs_p": null,
"transcript": "ENST00000580430.1",
"protein_id": "ENSP00000463790.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 483,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "n.240-120G>A",
"hgvs_p": null,
"transcript": "ENST00000578981.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 748,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2775-120G>A",
"hgvs_p": null,
"transcript": "XM_047436985.1",
"protein_id": "XP_047292941.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2694-120G>A",
"hgvs_p": null,
"transcript": "XM_011525429.3",
"protein_id": "XP_011523731.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2667-120G>A",
"hgvs_p": null,
"transcript": "XM_047436986.1",
"protein_id": "XP_047292942.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2586-120G>A",
"hgvs_p": null,
"transcript": "XM_006722154.4",
"protein_id": "XP_006722217.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 22,
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"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2364-120G>A",
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"transcript": "XM_047436989.1",
"protein_id": "XP_047292945.1",
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},
{
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],
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"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2364-120G>A",
"hgvs_p": null,
"transcript": "XM_047436990.1",
"protein_id": "XP_047292946.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.2364-120G>A",
"hgvs_p": null,
"transcript": "XM_047436991.1",
"protein_id": "XP_047292947.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 17,
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"gene_symbol": "KSR1",
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"hgvs_c": "c.1767-120G>A",
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"transcript": "XM_047436992.1",
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},
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],
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"gene_symbol": "KSR1",
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"hgvs_c": "c.1767-120G>A",
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},
{
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],
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"intron_rank": 15,
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"gene_symbol": "KSR1",
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"hgvs_c": "c.1674-120G>A",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.1632-120G>A",
"hgvs_p": null,
"transcript": "XM_047436995.1",
"protein_id": "XP_047292951.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "n.3105-120G>A",
"hgvs_p": null,
"transcript": "XR_934587.4",
"protein_id": null,
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"aa_start": null,
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{
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.9,
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"phylop100way_score": -2.408,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000644974.2",
"gene_symbol": "KSR1",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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{
"score": -12,
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"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000584605.5",
"gene_symbol": "ENSG00000266728",
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"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-170G>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
}