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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: 9-113318565-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113318565&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WDR31",
"hgnc_id": 21421,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001012361.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 89,
"alphamissense_prediction": null,
"alphamissense_score": 0.0708,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05163496732711792,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1104,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001012361.4",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374193.9",
"protein_coding": true,
"protein_id": "NP_001012361.1",
"strand": false,
"transcript": "NM_001012361.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1104,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000374193.9",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001012361.4",
"protein_coding": true,
"protein_id": "ENSP00000363308.3",
"strand": false,
"transcript": "ENST00000374193.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000461942.5",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "n.1042G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461942.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "V",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1116,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944273.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614332.1",
"strand": false,
"transcript": "ENST00000944273.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1107,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000865157.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Val286Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535216.1",
"strand": false,
"transcript": "ENST00000865157.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1107,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944266.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Val286Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614325.1",
"strand": false,
"transcript": "ENST00000944266.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1104,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000865155.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535214.1",
"strand": false,
"transcript": "ENST00000865155.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 1104,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865161.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535220.1",
"strand": false,
"transcript": "ENST00000865161.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 1104,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944262.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614321.1",
"strand": false,
"transcript": "ENST00000944262.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 1104,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944269.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614328.1",
"strand": false,
"transcript": "ENST00000944269.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1104,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944271.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614330.1",
"strand": false,
"transcript": "ENST00000944271.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 366,
"aa_ref": "V",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4868,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1101,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_145241.5",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_660284.1",
"strand": false,
"transcript": "NM_145241.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 366,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4862,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1101,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000341761.8",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345027.3",
"strand": false,
"transcript": "ENST00000341761.8",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 366,
"aa_ref": "V",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1101,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000865156.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535215.1",
"strand": false,
"transcript": "ENST00000865156.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 366,
"aa_ref": "V",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1101,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944265.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614324.1",
"strand": false,
"transcript": "ENST00000944265.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1029,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000865159.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535218.1",
"strand": false,
"transcript": "ENST00000865159.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 342,
"aa_ref": "V",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1029,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000865160.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535219.1",
"strand": false,
"transcript": "ENST00000865160.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1026,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000865158.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Val259Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535217.1",
"strand": false,
"transcript": "ENST00000865158.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 341,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1026,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944270.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Val259Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614329.1",
"strand": false,
"transcript": "ENST00000944270.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 333,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1002,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944263.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614322.1",
"strand": false,
"transcript": "ENST00000944263.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 332,
"aa_ref": "V",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 851,
"cds_end": null,
"cds_length": 999,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944267.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Val250Ile",
"intron_rank": null,
"intron_rank_end": null,
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