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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: 18-62045888-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=62045888&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 62045888,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438896.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2764C>G",
"hgvs_p": "p.Leu922Val",
"transcript": "NM_176787.5",
"protein_id": "NP_789744.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 931,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": "ENST00000640252.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176787.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2764C>G",
"hgvs_p": "p.Leu922Val",
"transcript": "ENST00000640252.2",
"protein_id": "ENSP00000492233.1",
"transcript_support_level": 1,
"aa_start": 922,
"aa_end": null,
"aa_length": 931,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": "NM_176787.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640252.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2764C>G",
"hgvs_p": "p.Leu922Val",
"transcript": "ENST00000400334.7",
"protein_id": "ENSP00000383188.2",
"transcript_support_level": 1,
"aa_start": 922,
"aa_end": null,
"aa_length": 931,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400334.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "n.*732C>G",
"hgvs_p": null,
"transcript": "ENST00000638424.1",
"protein_id": "ENSP00000491963.1",
"transcript_support_level": 5,
"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": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "n.*732C>G",
"hgvs_p": null,
"transcript": "ENST00000638424.1",
"protein_id": "ENSP00000491963.1",
"transcript_support_level": 5,
"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": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638424.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2965C>G",
"hgvs_p": "p.Leu989Val",
"transcript": "ENST00000858614.1",
"protein_id": "ENSP00000528673.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 998,
"cds_start": 2965,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858614.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2887C>G",
"hgvs_p": "p.Leu963Val",
"transcript": "ENST00000858622.1",
"protein_id": "ENSP00000528681.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 972,
"cds_start": 2887,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 3293,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858622.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2881C>G",
"hgvs_p": "p.Leu961Val",
"transcript": "NM_001438896.1",
"protein_id": "NP_001425825.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 970,
"cds_start": 2881,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438896.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2881C>G",
"hgvs_p": "p.Leu961Val",
"transcript": "ENST00000639902.1",
"protein_id": "ENSP00000490965.1",
"transcript_support_level": 5,
"aa_start": 961,
"aa_end": null,
"aa_length": 970,
"cds_start": 2881,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3185,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639902.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2881C>G",
"hgvs_p": "p.Leu961Val",
"transcript": "ENST00000640540.1",
"protein_id": "ENSP00000491620.1",
"transcript_support_level": 5,
"aa_start": 961,
"aa_end": null,
"aa_length": 970,
"cds_start": 2881,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3089,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640540.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2881C>G",
"hgvs_p": "p.Leu961Val",
"transcript": "ENST00000962942.1",
"protein_id": "ENSP00000633001.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 970,
"cds_start": 2881,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962942.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2881C>G",
"hgvs_p": "p.Leu961Val",
"transcript": "ENST00000962943.1",
"protein_id": "ENSP00000633002.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 970,
"cds_start": 2881,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962943.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2848C>G",
"hgvs_p": "p.Leu950Val",
"transcript": "ENST00000962945.1",
"protein_id": "ENSP00000633004.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 959,
"cds_start": 2848,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962945.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2830C>G",
"hgvs_p": "p.Leu944Val",
"transcript": "ENST00000962946.1",
"protein_id": "ENSP00000633005.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 953,
"cds_start": 2830,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3034,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962946.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2830C>G",
"hgvs_p": "p.Leu944Val",
"transcript": "ENST00000962948.1",
"protein_id": "ENSP00000633007.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 953,
"cds_start": 2830,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3142,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962948.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2824C>G",
"hgvs_p": "p.Leu942Val",
"transcript": "ENST00000858615.1",
"protein_id": "ENSP00000528674.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 951,
"cds_start": 2824,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858615.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2821C>G",
"hgvs_p": "p.Leu941Val",
"transcript": "ENST00000962940.1",
"protein_id": "ENSP00000632999.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 950,
"cds_start": 2821,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962940.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2809C>G",
"hgvs_p": "p.Leu937Val",
"transcript": "ENST00000962947.1",
"protein_id": "ENSP00000633006.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 946,
"cds_start": 2809,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962947.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2788C>G",
"hgvs_p": "p.Leu930Val",
"transcript": "ENST00000927326.1",
"protein_id": "ENSP00000597385.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 939,
"cds_start": 2788,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927326.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2764C>G",
"hgvs_p": "p.Leu922Val",
"transcript": "NM_012327.6",
"protein_id": "NP_036459.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 931,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 7859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012327.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2764C>G",
"hgvs_p": "p.Leu922Val",
"transcript": "ENST00000357637.10",
"protein_id": "ENSP00000350263.4",
"transcript_support_level": 5,
"aa_start": 922,
"aa_end": null,
"aa_length": 931,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357637.10"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2764C>G",
"hgvs_p": "p.Leu922Val",
"transcript": "ENST00000638936.1",
"protein_id": "ENSP00000492592.1",
"transcript_support_level": 5,
"aa_start": 922,
"aa_end": null,
"aa_length": 931,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.49,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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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
}