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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: 9-27949152-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=27949152&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 27949152,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000698399.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "NM_001258282.3",
"protein_id": "NP_001245211.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 14226,
"mane_select": "ENST00000698399.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "ENST00000698399.1",
"protein_id": "ENSP00000513694.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 14226,
"mane_select": "NM_001258282.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "NM_001354574.2",
"protein_id": "NP_001341503.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 14193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "NM_001354575.2",
"protein_id": "NP_001341504.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 13756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "NM_152570.4",
"protein_id": "NP_689783.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 13705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "ENST00000379992.6",
"protein_id": "ENSP00000369328.1",
"transcript_support_level": 5,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "ENST00000698400.1",
"protein_id": "ENSP00000513695.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "ENST00000698401.1",
"protein_id": "ENSP00000513696.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "ENST00000698402.1",
"protein_id": "ENSP00000513697.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "ENST00000698403.1",
"protein_id": "ENSP00000513698.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_011517724.3",
"protein_id": "XP_011516026.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 5890,
"cdna_end": null,
"cdna_length": 17425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_011517728.3",
"protein_id": "XP_011516030.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 5669,
"cdna_end": null,
"cdna_length": 17204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_017014303.3",
"protein_id": "XP_016869792.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
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"cds_length": 1821,
"cdna_start": 5561,
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"cdna_length": 17096,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_017014304.2",
"protein_id": "XP_016869793.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_017014305.2",
"protein_id": "XP_016869794.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
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"cdna_start": 7877,
"cdna_end": null,
"cdna_length": 19412,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_017014306.3",
"protein_id": "XP_016869795.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_017014307.2",
"protein_id": "XP_016869796.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
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"cdna_start": 2685,
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"cdna_length": 14220,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_047422810.1",
"protein_id": "XP_047278766.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
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"cdna_start": 2808,
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"cdna_length": 14343,
"mane_select": null,
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"feature": null
},
{
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"aa_alt": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_047422811.1",
"protein_id": "XP_047278767.1",
"transcript_support_level": null,
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},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_047422812.1",
"protein_id": "XP_047278768.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1520,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_047422813.1",
"protein_id": "XP_047278769.1",
"transcript_support_level": null,
"aa_start": 507,
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"aa_length": 606,
"cds_start": 1520,
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"cdna_start": 2281,
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"cdna_length": 13816,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "XM_047422814.1",
"protein_id": "XP_047278770.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 606,
"cds_start": 1520,
"cds_end": null,
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"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 14270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
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],
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{
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"BS2"
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"verdict": "Likely_benign",
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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
}