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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: 16-85805047-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=85805047&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 85805047,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000253452.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_001861.6",
"protein_id": "NP_001852.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 169,
"cds_start": 184,
"cds_end": null,
"cds_length": 510,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 763,
"mane_select": "ENST00000253452.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "ENST00000253452.8",
"protein_id": "ENSP00000253452.2",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 169,
"cds_start": 184,
"cds_end": null,
"cds_length": 510,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 763,
"mane_select": "NM_001861.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_001318786.3",
"protein_id": "NP_001305715.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 169,
"cds_start": 184,
"cds_end": null,
"cds_length": 510,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "ENST00000561569.5",
"protein_id": "ENSP00000457015.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 169,
"cds_start": 184,
"cds_end": null,
"cds_length": 510,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "ENST00000562336.5",
"protein_id": "ENSP00000457513.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 169,
"cds_start": 184,
"cds_end": null,
"cds_length": 510,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_001318788.2",
"protein_id": "NP_001305717.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 140,
"cds_start": 184,
"cds_end": null,
"cds_length": 423,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "NM_001318794.2",
"protein_id": "NP_001305723.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 139,
"cds_start": 184,
"cds_end": null,
"cds_length": 420,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "ENST00000568794.5",
"protein_id": "ENSP00000455030.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 139,
"cds_start": 184,
"cds_end": null,
"cds_length": 420,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.70T>G",
"hgvs_p": "p.Leu24Val",
"transcript": "NM_001318797.3",
"protein_id": "NP_001305726.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 131,
"cds_start": 70,
"cds_end": null,
"cds_length": 396,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "ENST00000564903.1",
"protein_id": "ENSP00000454714.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 126,
"cds_start": 184,
"cds_end": null,
"cds_length": 381,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.70T>G",
"hgvs_p": "p.Leu24Val",
"transcript": "ENST00000566405.5",
"protein_id": "ENSP00000455301.1",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 107,
"cds_start": 70,
"cds_end": null,
"cds_length": 324,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.202T>G",
"hgvs_p": "p.Leu68Val",
"transcript": "XM_024450156.2",
"protein_id": "XP_024305924.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 175,
"cds_start": 202,
"cds_end": null,
"cds_length": 528,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "c.184T>G",
"hgvs_p": "p.Leu62Val",
"transcript": "XM_047433623.1",
"protein_id": "XP_047289579.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 169,
"cds_start": 184,
"cds_end": null,
"cds_length": 510,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 751,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.263T>G",
"hgvs_p": null,
"transcript": "ENST00000563774.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 566,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.184T>G",
"hgvs_p": null,
"transcript": "ENST00000564544.1",
"protein_id": "ENSP00000456452.1",
"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": 617,
"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": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.188T>G",
"hgvs_p": null,
"transcript": "ENST00000564648.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1235,
"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": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.*177T>G",
"hgvs_p": null,
"transcript": "ENST00000566115.5",
"protein_id": "ENSP00000455437.1",
"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": 471,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.310T>G",
"hgvs_p": null,
"transcript": "ENST00000566617.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 572,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.280T>G",
"hgvs_p": null,
"transcript": "ENST00000567241.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 561,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.167T>G",
"hgvs_p": null,
"transcript": "ENST00000567266.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 546,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.316T>G",
"hgvs_p": null,
"transcript": "ENST00000568339.5",
"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": 2271,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.1991T>G",
"hgvs_p": null,
"transcript": "ENST00000569997.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 3946,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COX4I1",
"gene_hgnc_id": 2265,
"hgvs_c": "n.326T>G",
"hgvs_p": null,
"transcript": "ENST00000570123.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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],
"gene_symbol": "COX4I1",
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"computational_score_selected": 0.949838399887085,
"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.2,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000253452.8",
"gene_symbol": "COX4I1",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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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
}