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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: 9-36147849-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36147849&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36147849,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001287013.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Val26Ala",
"transcript": "NM_022343.4",
"protein_id": "NP_071738.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 154,
"cds_start": 77,
"cds_end": null,
"cds_length": 465,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": "ENST00000377960.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022343.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Val26Ala",
"transcript": "ENST00000377960.9",
"protein_id": "ENSP00000367196.4",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 154,
"cds_start": 77,
"cds_end": null,
"cds_length": 465,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": "NM_022343.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377960.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Val41Ala",
"transcript": "NM_001287013.2",
"protein_id": "NP_001273942.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 169,
"cds_start": 122,
"cds_end": null,
"cds_length": 510,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287013.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Val26Ala",
"transcript": "NM_001287010.2",
"protein_id": "NP_001273939.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 128,
"cds_start": 77,
"cds_end": null,
"cds_length": 387,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287010.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Val26Ala",
"transcript": "ENST00000377959.5",
"protein_id": "ENSP00000367195.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 128,
"cds_start": 77,
"cds_end": null,
"cds_length": 387,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377959.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Val26Ala",
"transcript": "NM_001287011.2",
"protein_id": "NP_001273940.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 104,
"cds_start": 77,
"cds_end": null,
"cds_length": 315,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287011.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Val26Ala",
"transcript": "NM_001287012.2",
"protein_id": "NP_001273941.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 62,
"cds_start": 77,
"cds_end": null,
"cds_length": 189,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287012.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Val26Ala",
"transcript": "ENST00000396613.7",
"protein_id": "ENSP00000379857.4",
"transcript_support_level": 4,
"aa_start": 26,
"aa_end": null,
"aa_length": 62,
"cds_start": 77,
"cds_end": null,
"cds_length": 189,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396613.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Val41Ala",
"transcript": "XM_024447416.2",
"protein_id": "XP_024303184.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 77,
"cds_start": 122,
"cds_end": null,
"cds_length": 234,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447416.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.*34T>C",
"hgvs_p": null,
"transcript": "XM_047422807.1",
"protein_id": "XP_047278763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.14-3023T>C",
"hgvs_p": null,
"transcript": "ENST00000885959.1",
"protein_id": "ENSP00000556018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.58+10972T>C",
"hgvs_p": null,
"transcript": "NM_001287014.2",
"protein_id": "NP_001273943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": null,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287014.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.58+10972T>C",
"hgvs_p": null,
"transcript": "ENST00000619700.1",
"protein_id": "ENSP00000478768.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": null,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "c.13+11058T>C",
"hgvs_p": null,
"transcript": "ENST00000885960.1",
"protein_id": "ENSP00000556019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885960.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "n.934T>C",
"hgvs_p": null,
"transcript": "ENST00000474050.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474050.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "n.504T>C",
"hgvs_p": null,
"transcript": "NR_104637.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104637.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "n.112T>C",
"hgvs_p": null,
"transcript": "NR_104638.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104638.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "n.123T>C",
"hgvs_p": null,
"transcript": "NR_104639.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104639.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "n.123T>C",
"hgvs_p": null,
"transcript": "NR_104640.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104640.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"hgvs_c": "n.256+11058T>C",
"hgvs_p": null,
"transcript": "NR_104641.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104641.1"
}
],
"gene_symbol": "GLIPR2",
"gene_hgnc_id": 18007,
"dbsnp": "rs781535657",
"frequency_reference_population": 0.000009676327,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000967633,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04265707731246948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.2016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.438,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001287013.2",
"gene_symbol": "GLIPR2",
"hgnc_id": 18007,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Val41Ala"
}
],
"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
}