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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: 17-27516617-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=27516617&ref=G&alt=A&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": "KSR1",
"hgnc_id": 6465,
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001394583.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 97341,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.99,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9900000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 928,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6026,
"cdna_start": null,
"cds_end": null,
"cds_length": 2787,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394583.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644974.2",
"protein_coding": true,
"protein_id": "NP_001381512.1",
"strand": true,
"transcript": "NM_001394583.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 928,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6026,
"cdna_start": null,
"cds_end": null,
"cds_length": 2787,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644974.2",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394583.1",
"protein_coding": true,
"protein_id": "ENSP00000494552.1",
"strand": true,
"transcript": "ENST00000644974.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 901,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5945,
"cdna_start": null,
"cds_end": null,
"cds_length": 2706,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367810.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354739.1",
"strand": true,
"transcript": "NM_001367810.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 762,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7280,
"cdna_start": null,
"cds_end": null,
"cds_length": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014238.2",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.-181+32766G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055053.1",
"strand": true,
"transcript": "NM_014238.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 762,
"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": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398988.7",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.-181+32766G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381958.3",
"strand": true,
"transcript": "ENST00000398988.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1041,
"cdna_start": null,
"cds_end": null,
"cds_length": 466,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000583370.5",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.-323+32783G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464081.1",
"strand": true,
"transcript": "ENST00000583370.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 950,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": null,
"cds_end": null,
"cds_length": 2853,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436985.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292941.1",
"strand": true,
"transcript": "XM_047436985.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 923,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6011,
"cdna_start": null,
"cds_end": null,
"cds_length": 2772,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525429.3",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523731.1",
"strand": true,
"transcript": "XM_011525429.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 914,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5984,
"cdna_start": null,
"cds_end": null,
"cds_length": 2745,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436986.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292942.1",
"strand": true,
"transcript": "XM_047436986.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 898,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": null,
"cds_end": null,
"cds_length": 2697,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525431.3",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523733.1",
"strand": true,
"transcript": "XM_011525431.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5903,
"cdna_start": null,
"cds_end": null,
"cds_length": 2664,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
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"feature": "XM_006722154.4",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722217.1",
"strand": true,
"transcript": "XM_006722154.4",
"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,
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
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"feature": "XM_047436987.1",
"gene_hgnc_id": 6465,
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"hgvs_c": "c.232-33951G>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292943.1",
"strand": true,
"transcript": "XM_047436987.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
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"feature": "XM_047436988.1",
"gene_hgnc_id": 6465,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047292944.1",
"strand": true,
"transcript": "XM_047436988.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6286,
"cdna_start": null,
"cds_end": null,
"cds_length": 2442,
"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436989.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.-181+32766G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292945.1",
"strand": true,
"transcript": "XM_047436989.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 22,
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"feature": "XM_047436990.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047292946.1",
"strand": true,
"transcript": "XM_047436990.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436991.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.-181+21594G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292947.1",
"strand": true,
"transcript": "XM_047436991.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025279.2",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "c.232-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016880768.1",
"strand": true,
"transcript": "XM_017025279.2",
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},
{
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"consequences": [
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],
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"feature": "XM_017025280.3",
"gene_hgnc_id": 6465,
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"protein_id": "XP_016880769.1",
"strand": true,
"transcript": "XM_017025280.3",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000582311.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "n.262+32766G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000582311.1",
"transcript_support_level": 2
},
{
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"biotype": "pseudogene",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "XR_007065523.1",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "n.428-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007065523.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_934587.4",
"gene_hgnc_id": 6465,
"gene_symbol": "KSR1",
"hgvs_c": "n.428-33951G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_934587.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2945412",
"effect": "intron_variant",
"frequency_reference_population": 0.640806,
"gene_hgnc_id": 6465,
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}
]
}