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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: 2-102814768-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102814768&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102814768,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144632.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Val164Leu",
"transcript": "NM_144632.5",
"protein_id": "NP_653233.5",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 229,
"cds_start": 490,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000412401.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144632.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000412401.3",
"protein_id": "ENSP00000394178.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 229,
"cds_start": 490,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144632.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412401.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Val121Leu",
"transcript": "ENST00000409173.5",
"protein_id": "ENSP00000387184.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 186,
"cds_start": 361,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409173.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.202G>C",
"hgvs_p": "p.Val68Leu",
"transcript": "ENST00000409528.5",
"protein_id": "ENSP00000387258.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 133,
"cds_start": 202,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409528.5"
},
{
"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": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "n.256G>C",
"hgvs_p": null,
"transcript": "ENST00000484094.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000484094.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Val121Leu",
"transcript": "NM_001321343.2",
"protein_id": "NP_001308272.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 186,
"cds_start": 361,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321343.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Val121Leu",
"transcript": "NM_001321344.2",
"protein_id": "NP_001308273.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 186,
"cds_start": 361,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321344.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.202G>C",
"hgvs_p": "p.Val68Leu",
"transcript": "NM_001321345.2",
"protein_id": "NP_001308274.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 133,
"cds_start": 202,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321345.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Val22Leu",
"transcript": "NM_001321346.2",
"protein_id": "NP_001308275.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 87,
"cds_start": 64,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321346.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Val22Leu",
"transcript": "ENST00000488134.5",
"protein_id": "ENSP00000498739.1",
"transcript_support_level": 2,
"aa_start": 22,
"aa_end": null,
"aa_length": 87,
"cds_start": 64,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488134.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.352G>C",
"hgvs_p": "p.Val118Leu",
"transcript": "XM_017003375.2",
"protein_id": "XP_016858864.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 183,
"cds_start": 352,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003375.2"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.469+16768G>C",
"hgvs_p": null,
"transcript": "ENST00000640575.2",
"protein_id": "ENSP00000492657.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640575.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.325+16768G>C",
"hgvs_p": null,
"transcript": "ENST00000486293.1",
"protein_id": "ENSP00000498878.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486293.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.181+16768G>C",
"hgvs_p": null,
"transcript": "ENST00000639249.1",
"protein_id": "ENSP00000491614.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639249.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.469+16768G>C",
"hgvs_p": null,
"transcript": "XM_006712287.2",
"protein_id": "XP_006712350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712287.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "c.181+16768G>C",
"hgvs_p": null,
"transcript": "XM_017003376.2",
"protein_id": "XP_016858865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003376.2"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"hgvs_c": "n.656+16768G>C",
"hgvs_p": null,
"transcript": "XR_427070.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_427070.3"
}
],
"gene_symbol": "TMEM182",
"gene_hgnc_id": 26391,
"dbsnp": "rs779871458",
"frequency_reference_population": 6.8429597e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84296e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.732231080532074,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.357,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3147,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.887,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144632.5",
"gene_symbol": "TMEM182",
"hgnc_id": 26391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Val164Leu"
}
],
"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
}