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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: 10-125788938-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=125788938&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 125788938,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001324036.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "NM_000375.3",
"protein_id": "NP_000366.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368797.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000375.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000368797.10",
"protein_id": "ENSP00000357787.4",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000375.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368797.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000368786.5",
"protein_id": "ENSP00000357775.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368786.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.908C>T",
"hgvs_p": "p.Ala303Val",
"transcript": "ENST00000940865.1",
"protein_id": "ENSP00000610924.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 325,
"cds_start": 908,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940865.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "ENST00000879953.1",
"protein_id": "ENSP00000550012.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 324,
"cds_start": 905,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879953.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Ala295Val",
"transcript": "ENST00000879950.1",
"protein_id": "ENSP00000550009.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 317,
"cds_start": 884,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879950.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Ala295Val",
"transcript": "ENST00000940867.1",
"protein_id": "ENSP00000610926.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 317,
"cds_start": 884,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940867.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Ala277Val",
"transcript": "ENST00000940866.1",
"protein_id": "ENSP00000610925.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 299,
"cds_start": 830,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940866.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.827C>T",
"hgvs_p": "p.Ala276Val",
"transcript": "ENST00000879956.1",
"protein_id": "ENSP00000550015.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 298,
"cds_start": 827,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879956.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "NM_001324036.2",
"protein_id": "NP_001310965.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 292,
"cds_start": 809,
"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": "NM_001324036.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "ENST00000650587.1",
"protein_id": "ENSP00000497366.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 292,
"cds_start": 809,
"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": "ENST00000650587.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000879945.1",
"protein_id": "ENSP00000550004.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 282,
"cds_start": 779,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879945.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Ala250Val",
"transcript": "ENST00000879955.1",
"protein_id": "ENSP00000550014.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 272,
"cds_start": 749,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879955.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.734C>T",
"hgvs_p": "p.Ala245Val",
"transcript": "ENST00000961000.1",
"protein_id": "ENSP00000631059.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 267,
"cds_start": 734,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961000.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "NM_001324037.2",
"protein_id": "NP_001310966.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324037.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000649536.1",
"protein_id": "ENSP00000497817.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649536.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000713579.1",
"protein_id": "ENSP00000518871.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713579.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000879943.1",
"protein_id": "ENSP00000550002.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879943.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000879944.1",
"protein_id": "ENSP00000550003.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879944.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000879948.1",
"protein_id": "ENSP00000550007.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879948.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000879949.1",
"protein_id": "ENSP00000550008.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879949.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Ala243Val",
"transcript": "ENST00000879951.1",
"protein_id": "ENSP00000550010.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 265,
"cds_start": 728,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879951.1"
},
{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}