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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: 14-102229522-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102229522&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102229522,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000517966.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Trp67*",
"transcript": "ENST00000517966.5",
"protein_id": "ENSP00000453224.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 95,
"cds_start": 200,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517966.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Trp67*",
"transcript": "ENST00000523231.5",
"protein_id": "ENSP00000453762.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 95,
"cds_start": 200,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523231.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Trp67*",
"transcript": "ENST00000524370.5",
"protein_id": "ENSP00000452978.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 95,
"cds_start": 200,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524370.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Arg",
"transcript": "NM_014226.3",
"protein_id": "NP_055041.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 419,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361847.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014226.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Arg",
"transcript": "ENST00000361847.7",
"protein_id": "ENSP00000355304.2",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 419,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014226.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361847.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "n.64+3013G>A",
"hgvs_p": null,
"transcript": "ENST00000559138.5",
"protein_id": "ENSP00000453401.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559138.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Trp67*",
"transcript": "ENST00000519058.5",
"protein_id": "ENSP00000429672.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 125,
"cds_start": 200,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519058.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Trp67*",
"transcript": "ENST00000522534.5",
"protein_id": "ENSP00000454203.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 125,
"cds_start": 200,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522534.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Trp67*",
"transcript": "ENST00000522537.5",
"protein_id": "ENSP00000453799.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 95,
"cds_start": 200,
"cds_end": null,
"cds_length": 289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522537.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Trp67*",
"transcript": "ENST00000522867.1",
"protein_id": "ENSP00000454098.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 95,
"cds_start": 200,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522867.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Gly372Arg",
"transcript": "NM_001330234.2",
"protein_id": "NP_001317163.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 418,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330234.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Gly372Arg",
"transcript": "ENST00000522874.5",
"protein_id": "ENSP00000429469.1",
"transcript_support_level": 5,
"aa_start": 372,
"aa_end": null,
"aa_length": 418,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522874.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Arg",
"transcript": "ENST00000899020.1",
"protein_id": "ENSP00000569079.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 399,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899020.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Arg",
"transcript": "NM_001272011.2",
"protein_id": "NP_001258940.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 389,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272011.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Gly343Arg",
"transcript": "ENST00000524214.5",
"protein_id": "ENSP00000428942.1",
"transcript_support_level": 2,
"aa_start": 343,
"aa_end": null,
"aa_length": 389,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524214.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Gly342Arg",
"transcript": "NM_001353827.2",
"protein_id": "NP_001340756.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 388,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353827.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Gly342Arg",
"transcript": "ENST00000899019.1",
"protein_id": "ENSP00000569078.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 388,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899019.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Gly309Arg",
"transcript": "NM_001353828.2",
"protein_id": "NP_001340757.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 355,
"cds_start": 925,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353828.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Arg",
"transcript": "NM_001353829.2",
"protein_id": "NP_001340758.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 314,
"cds_start": 802,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353829.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Gly267Arg",
"transcript": "NM_001353830.2",
"protein_id": "NP_001340759.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 313,
"cds_start": 799,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353830.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Gly191Arg",
"transcript": "NM_001353831.2",
"protein_id": "NP_001340760.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 237,
"cds_start": 571,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353831.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOK",
"gene_hgnc_id": 9833,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Gly139Arg",
"transcript": "NM_001353832.2",
"protein_id": "NP_001340761.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 185,
"cds_start": 415,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353832.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
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"bayesdelnoaf_score": -0.35,
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}