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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: 9-28644925-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=28644925&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 28644925,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000698399.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-314+25275T>C",
"hgvs_p": null,
"transcript": "NM_001258282.3",
"protein_id": "NP_001245211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14226,
"mane_select": "ENST00000698399.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-314+25275T>C",
"hgvs_p": null,
"transcript": "ENST00000698399.1",
"protein_id": "ENSP00000513694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14226,
"mane_select": "NM_001258282.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-281+25275T>C",
"hgvs_p": null,
"transcript": "NM_001354574.2",
"protein_id": "NP_001341503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-314+25275T>C",
"hgvs_p": null,
"transcript": "NM_001354575.2",
"protein_id": "NP_001341504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-365+25275T>C",
"hgvs_p": null,
"transcript": "NM_152570.4",
"protein_id": "NP_689783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-365+25275T>C",
"hgvs_p": null,
"transcript": "ENST00000379992.6",
"protein_id": "ENSP00000369328.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-529+25275T>C",
"hgvs_p": null,
"transcript": "ENST00000698400.1",
"protein_id": "ENSP00000513695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-684+25275T>C",
"hgvs_p": null,
"transcript": "ENST00000698401.1",
"protein_id": "ENSP00000513696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-469+25275T>C",
"hgvs_p": null,
"transcript": "ENST00000698402.1",
"protein_id": "ENSP00000513697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-690+25275T>C",
"hgvs_p": null,
"transcript": "ENST00000698403.1",
"protein_id": "ENSP00000513698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-425+25275T>C",
"hgvs_p": null,
"transcript": "ENST00000698404.1",
"protein_id": "ENSP00000513699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-3184+25275T>C",
"hgvs_p": null,
"transcript": "XM_017014303.3",
"protein_id": "XP_016869792.1",
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"aa_start": null,
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"aa_length": 606,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-431+25275T>C",
"hgvs_p": null,
"transcript": "XM_047422810.1",
"protein_id": "XP_047278766.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-431+25275T>C",
"hgvs_p": null,
"transcript": "XM_047422811.1",
"protein_id": "XP_047278767.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
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"hgvs_c": "c.-314+25275T>C",
"hgvs_p": null,
"transcript": "XM_047422812.1",
"protein_id": "XP_047278768.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-374+25275T>C",
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"transcript": "XM_047422813.1",
"protein_id": "XP_047278769.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-358+25275T>C",
"hgvs_p": null,
"transcript": "XM_047422814.1",
"protein_id": "XP_047278770.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-358+25275T>C",
"hgvs_p": null,
"transcript": "XM_047422815.1",
"protein_id": "XP_047278771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-314+25275T>C",
"hgvs_p": null,
"transcript": "XM_047422816.1",
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},
{
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"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "LINGO2",
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"hgvs_c": "c.-314+25275T>C",
"hgvs_p": null,
"transcript": "XM_047422817.1",
"protein_id": "XP_047278773.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"hgvs_c": "c.-281+25275T>C",
"hgvs_p": null,
"transcript": "XM_047422818.1",
"protein_id": "XP_047278774.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105376003",
"gene_hgnc_id": null,
"hgvs_c": "n.294-11976A>G",
"hgvs_p": null,
"transcript": "XR_929533.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LINGO2",
"gene_hgnc_id": 21207,
"dbsnp": "rs10511830",
"frequency_reference_population": 0.089978956,
"hom_count_reference_population": 876,
"allele_count_reference_population": 13684,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.089979,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 13684,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 876,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.163,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000698399.1",
"gene_symbol": "LINGO2",
"hgnc_id": 21207,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-314+25275T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_929533.4",
"gene_symbol": "LOC105376003",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.294-11976A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}