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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: X-49076469-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49076469&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49076469,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_007075.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "NM_001029896.2",
"protein_id": "NP_001025067.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 360,
"cds_start": 397,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376372.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001029896.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000376372.9",
"protein_id": "ENSP00000365551.3",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 360,
"cds_start": 397,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001029896.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376372.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "ENST00000356463.7",
"protein_id": "ENSP00000348848.3",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 361,
"cds_start": 400,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356463.7"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "ENST00000376368.7",
"protein_id": "ENSP00000365546.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 361,
"cds_start": 400,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376368.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288053",
"gene_hgnc_id": null,
"hgvs_c": "c.131-524C>T",
"hgvs_p": null,
"transcript": "ENST00000376358.4",
"protein_id": "ENSP00000365536.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376358.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142*",
"transcript": "ENST00000954188.1",
"protein_id": "ENSP00000624247.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 380,
"cds_start": 424,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954188.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151*",
"transcript": "ENST00000954181.1",
"protein_id": "ENSP00000624240.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 378,
"cds_start": 451,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954181.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "ENST00000905852.1",
"protein_id": "ENSP00000575911.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 372,
"cds_start": 400,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905852.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "ENST00000905855.1",
"protein_id": "ENSP00000575914.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 372,
"cds_start": 400,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905855.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "ENST00000954171.1",
"protein_id": "ENSP00000624230.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 372,
"cds_start": 400,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954171.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000322995.13",
"protein_id": "ENSP00000365543.5",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 371,
"cds_start": 397,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322995.13"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000905853.1",
"protein_id": "ENSP00000575912.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 371,
"cds_start": 397,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905853.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000905865.1",
"protein_id": "ENSP00000575924.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 371,
"cds_start": 397,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905865.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142*",
"transcript": "ENST00000905870.1",
"protein_id": "ENSP00000575929.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 369,
"cds_start": 424,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905870.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000905864.1",
"protein_id": "ENSP00000575923.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 367,
"cds_start": 397,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905864.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "ENST00000954183.1",
"protein_id": "ENSP00000624242.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 364,
"cds_start": 409,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954183.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "NM_007075.4",
"protein_id": "NP_009006.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 361,
"cds_start": 400,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007075.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "ENST00000905849.1",
"protein_id": "ENSP00000575908.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 361,
"cds_start": 400,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905849.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "ENST00000905860.1",
"protein_id": "ENSP00000575919.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 361,
"cds_start": 400,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905860.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000634944.1",
"protein_id": "ENSP00000488972.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 360,
"cds_start": 397,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634944.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000905844.1",
"protein_id": "ENSP00000575903.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 360,
"cds_start": 397,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905844.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000905846.1",
"protein_id": "ENSP00000575905.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 360,
"cds_start": 397,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905846.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.541,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.246,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_007075.4",
"gene_symbol": "WDR45",
"hgnc_id": 28912,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000376358.4",
"gene_symbol": "ENSG00000288053",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.131-524C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Neurodegeneration with brain iron accumulation 5,X-linked cerebral-cerebellar-coloboma syndrome syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:1",
"phenotype_combined": "not provided|X-linked cerebral-cerebellar-coloboma syndrome syndrome|Neurodegeneration with brain iron accumulation 5|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}