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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-48599646-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48599646&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48599646,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017883.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "NM_001347217.2",
"protein_id": "NP_001334146.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376729.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347217.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000376729.10",
"protein_id": "ENSP00000365919.5",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001347217.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376729.10"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000218056.9",
"protein_id": "ENSP00000218056.5",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218056.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "n.1319A>T",
"hgvs_p": null,
"transcript": "ENST00000479279.5",
"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": "ENST00000479279.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "NM_017883.6",
"protein_id": "NP_060353.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017883.6"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000888024.1",
"protein_id": "ENSP00000558083.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888024.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000888025.1",
"protein_id": "ENSP00000558084.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888025.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000888028.1",
"protein_id": "ENSP00000558087.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888028.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000921736.1",
"protein_id": "ENSP00000591795.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921736.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000949620.1",
"protein_id": "ENSP00000619679.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949620.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000949623.1",
"protein_id": "ENSP00000619682.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 452,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949623.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000888027.1",
"protein_id": "ENSP00000558086.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 484,
"cds_start": 452,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888027.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000949617.1",
"protein_id": "ENSP00000619676.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 484,
"cds_start": 452,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949617.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000888026.1",
"protein_id": "ENSP00000558085.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 481,
"cds_start": 452,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888026.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000949622.1",
"protein_id": "ENSP00000619681.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 481,
"cds_start": 452,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949622.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.389A>T",
"hgvs_p": "p.Asp130Val",
"transcript": "ENST00000949619.1",
"protein_id": "ENSP00000619678.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 464,
"cds_start": 389,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949619.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000921735.1",
"protein_id": "ENSP00000591794.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 440,
"cds_start": 452,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921735.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.239A>T",
"hgvs_p": "p.Asp80Val",
"transcript": "ENST00000949618.1",
"protein_id": "ENSP00000619677.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 414,
"cds_start": 239,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949618.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "NM_001166426.3",
"protein_id": "NP_001159898.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 393,
"cds_start": 176,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166426.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "NM_001347219.2",
"protein_id": "NP_001334148.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 393,
"cds_start": 176,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347219.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asp151Val",
"transcript": "ENST00000949621.1",
"protein_id": "ENSP00000619680.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 367,
"cds_start": 452,
"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": "ENST00000949621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "n.396A>T",
"hgvs_p": null,
"transcript": "ENST00000466962.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000466962.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"PP3"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "XL",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}