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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: 19-36103387-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36103387&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36103387,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000401500.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3559G>A",
"hgvs_p": "p.Val1187Met",
"transcript": "NM_001083961.2",
"protein_id": "NP_001077430.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3559,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "ENST00000401500.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3559G>A",
"hgvs_p": "p.Val1187Met",
"transcript": "ENST00000401500.7",
"protein_id": "ENSP00000384792.1",
"transcript_support_level": 1,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3559,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "NM_001083961.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*3419G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*3419G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3553G>A",
"hgvs_p": "p.Val1185Met",
"transcript": "ENST00000679714.1",
"protein_id": "ENSP00000506627.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1521,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Val1182Met",
"transcript": "NM_001411145.1",
"protein_id": "NP_001398074.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Val1182Met",
"transcript": "NM_173636.5",
"protein_id": "NP_775907.4",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Val1182Met",
"transcript": "ENST00000270301.12",
"protein_id": "ENSP00000270301.6",
"transcript_support_level": 5,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 3544,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Val1182Met",
"transcript": "ENST00000679682.1",
"protein_id": "ENSP00000506226.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3310G>A",
"hgvs_p": "p.Val1104Met",
"transcript": "NM_001411146.1",
"protein_id": "NP_001398075.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3310,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3310G>A",
"hgvs_p": "p.Val1104Met",
"transcript": "ENST00000680564.1",
"protein_id": "ENSP00000505582.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3310,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Val1182Met",
"transcript": "ENST00000680403.1",
"protein_id": "ENSP00000505677.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3544,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3208G>A",
"hgvs_p": "p.Val1070Met",
"transcript": "NM_001411147.1",
"protein_id": "NP_001398076.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3208,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3283,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3208G>A",
"hgvs_p": "p.Val1070Met",
"transcript": "ENST00000679757.1",
"protein_id": "ENSP00000505158.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3208,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"transcript": "ENST00000680211.1",
"protein_id": "ENSP00000506102.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 390,
"cds_start": 160,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3559G>A",
"hgvs_p": "p.Val1187Met",
"transcript": "XM_017026665.2",
"protein_id": "XP_016882154.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3559,
"cds_end": null,
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"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3529G>A",
"hgvs_p": "p.Val1177Met",
"transcript": "XM_047438657.1",
"protein_id": "XP_047294613.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1513,
"cds_start": 3529,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 3604,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3448G>A",
"hgvs_p": "p.Val1150Met",
"transcript": "XM_005258809.3",
"protein_id": "XP_005258866.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3433G>A",
"hgvs_p": "p.Val1145Met",
"transcript": "XM_047438658.1",
"protein_id": "XP_047294614.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1481,
"cds_start": 3433,
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"cdna_start": 3508,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3433G>A",
"hgvs_p": "p.Val1145Met",
"transcript": "XM_047438659.1",
"protein_id": "XP_047294615.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1481,
"cds_start": 3433,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 3508,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3418G>A",
"hgvs_p": "p.Val1140Met",
"transcript": "XM_047438660.1",
"protein_id": "XP_047294616.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1476,
"cds_start": 3418,
"cds_end": null,
"cds_length": 4431,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3295G>A",
"hgvs_p": "p.Val1099Met",
"transcript": "XM_047438661.1",
"protein_id": "XP_047294617.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3295,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3370,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"dbsnp": "rs587784557",
"frequency_reference_population": 0.000024170908,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000259945,
"gnomad_genomes_af": 0.00000659361,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.054266005754470825,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.1015,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.727,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000401500.7",
"gene_symbol": "WDR62",
"hgnc_id": 24502,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3559G>A",
"hgvs_p": "p.Val1187Met"
}
],
"clinvar_disease": " autosomal recessive, primary, with or without cortical malformations,Inborn genetic diseases,Microcephaly 2,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}