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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: 19-36104837-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36104837&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36104837,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001083961.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4381T>G",
"hgvs_p": "p.Trp1461Gly",
"transcript": "NM_001083961.2",
"protein_id": "NP_001077430.1",
"transcript_support_level": null,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4381,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401500.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083961.2"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4381T>G",
"hgvs_p": "p.Trp1461Gly",
"transcript": "ENST00000401500.7",
"protein_id": "ENSP00000384792.1",
"transcript_support_level": 1,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4381,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083961.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401500.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*4241T>G",
"hgvs_p": null,
"transcript": "ENST00000587391.6",
"protein_id": "ENSP00000465525.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000587391.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*4241T>G",
"hgvs_p": null,
"transcript": "ENST00000587391.6",
"protein_id": "ENSP00000465525.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000587391.6"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4375T>G",
"hgvs_p": "p.Trp1459Gly",
"transcript": "ENST00000679714.1",
"protein_id": "ENSP00000506627.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1521,
"cds_start": 4375,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679714.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4366T>G",
"hgvs_p": "p.Trp1456Gly",
"transcript": "NM_001411145.1",
"protein_id": "NP_001398074.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411145.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4366T>G",
"hgvs_p": "p.Trp1456Gly",
"transcript": "NM_173636.5",
"protein_id": "NP_775907.4",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173636.5"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4366T>G",
"hgvs_p": "p.Trp1456Gly",
"transcript": "ENST00000270301.12",
"protein_id": "ENSP00000270301.6",
"transcript_support_level": 5,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270301.12"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4366T>G",
"hgvs_p": "p.Trp1456Gly",
"transcript": "ENST00000679682.1",
"protein_id": "ENSP00000506226.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679682.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4132T>G",
"hgvs_p": "p.Trp1378Gly",
"transcript": "NM_001411146.1",
"protein_id": "NP_001398075.1",
"transcript_support_level": null,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4132,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411146.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4132T>G",
"hgvs_p": "p.Trp1378Gly",
"transcript": "ENST00000680564.1",
"protein_id": "ENSP00000505582.1",
"transcript_support_level": null,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4132,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680564.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4030T>G",
"hgvs_p": "p.Trp1344Gly",
"transcript": "NM_001411147.1",
"protein_id": "NP_001398076.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411147.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4030T>G",
"hgvs_p": "p.Trp1344Gly",
"transcript": "ENST00000679757.1",
"protein_id": "ENSP00000505158.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679757.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.982T>G",
"hgvs_p": "p.Trp328Gly",
"transcript": "ENST00000680211.1",
"protein_id": "ENSP00000506102.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 390,
"cds_start": 982,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680211.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4381T>G",
"hgvs_p": "p.Trp1461Gly",
"transcript": "XM_017026665.2",
"protein_id": "XP_016882154.1",
"transcript_support_level": null,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4381,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026665.2"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4351T>G",
"hgvs_p": "p.Trp1451Gly",
"transcript": "XM_047438657.1",
"protein_id": "XP_047294613.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1513,
"cds_start": 4351,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438657.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4270T>G",
"hgvs_p": "p.Trp1424Gly",
"transcript": "XM_005258809.3",
"protein_id": "XP_005258866.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1486,
"cds_start": 4270,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258809.3"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4255T>G",
"hgvs_p": "p.Trp1419Gly",
"transcript": "XM_047438658.1",
"protein_id": "XP_047294614.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4255,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438658.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4255T>G",
"hgvs_p": "p.Trp1419Gly",
"transcript": "XM_047438659.1",
"protein_id": "XP_047294615.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4255,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438659.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4240T>G",
"hgvs_p": "p.Trp1414Gly",
"transcript": "XM_047438660.1",
"protein_id": "XP_047294616.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 1476,
"cds_start": 4240,
"cds_end": null,
"cds_length": 4431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438660.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4117T>G",
"hgvs_p": "p.Trp1373Gly",
"transcript": "XM_047438661.1",
"protein_id": "XP_047294617.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4117,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438661.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4015T>G",
"hgvs_p": "p.Trp1339Gly",
"transcript": "XM_047438662.1",
"protein_id": "XP_047294618.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1401,
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],
"gene_symbol": "WDR62",
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"dbsnp": "rs61734910",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7739827632904053,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.549,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2694,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.949,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001083961.2",
"gene_symbol": "WDR62",
"hgnc_id": 24502,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4381T>G",
"hgvs_p": "p.Trp1461Gly"
}
],
"clinvar_disease": " autosomal recessive, primary, with or without cortical malformations,Microcephaly 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}