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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: 17-27582790-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=27582790&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 27582790,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000644974.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "NM_001394583.1",
"protein_id": "NP_001381512.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 928,
"cds_start": 665,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "ENST00000644974.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "ENST00000644974.2",
"protein_id": "ENSP00000494552.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 928,
"cds_start": 665,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "NM_001394583.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "NM_001367810.1",
"protein_id": "NP_001354739.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 901,
"cds_start": 665,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.410C>A",
"hgvs_p": "p.Ala137Asp",
"transcript": "ENST00000644418.1",
"protein_id": "ENSP00000494039.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 829,
"cds_start": 410,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "NM_014238.2",
"protein_id": "NP_055053.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 762,
"cds_start": 254,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000398988.7",
"protein_id": "ENSP00000381958.3",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 762,
"cds_start": 254,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "ENST00000583370.5",
"protein_id": "ENSP00000464081.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 154,
"cds_start": 254,
"cds_end": null,
"cds_length": 466,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_047436985.1",
"protein_id": "XP_047292941.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 950,
"cds_start": 665,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_011525429.3",
"protein_id": "XP_011523731.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 923,
"cds_start": 665,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 6011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_047436986.1",
"protein_id": "XP_047292942.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 914,
"cds_start": 665,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 5984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_011525431.3",
"protein_id": "XP_011523733.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 898,
"cds_start": 665,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_006722154.4",
"protein_id": "XP_006722217.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 887,
"cds_start": 665,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 5903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_047436987.1",
"protein_id": "XP_047292943.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 877,
"cds_start": 665,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_047436988.1",
"protein_id": "XP_047292944.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 863,
"cds_start": 665,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "XM_047436989.1",
"protein_id": "XP_047292945.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 813,
"cds_start": 254,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 6286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "XM_047436990.1",
"protein_id": "XP_047292946.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 813,
"cds_start": 254,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Asp",
"transcript": "XM_047436991.1",
"protein_id": "XP_047292947.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 813,
"cds_start": 254,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 5732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_017025279.2",
"protein_id": "XP_016880768.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 541,
"cds_start": 665,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Ala222Asp",
"transcript": "XM_017025280.3",
"protein_id": "XP_016880769.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 524,
"cds_start": 665,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "n.329C>A",
"hgvs_p": null,
"transcript": "ENST00000579399.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_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": "n.548C>A",
"hgvs_p": null,
"transcript": "ENST00000582311.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "n.861C>A",
"hgvs_p": null,
"transcript": "XR_007065523.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KSR1",
"gene_hgnc_id": 6465,
"hgvs_c": "n.861C>A",
"hgvs_p": null,
"transcript": "XR_934587.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}