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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: 18-62084586-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=62084586&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 62084586,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438896.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "NM_176787.5",
"protein_id": "NP_789744.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 931,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640252.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176787.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000640252.2",
"protein_id": "ENSP00000492233.1",
"transcript_support_level": 1,
"aa_start": 816,
"aa_end": null,
"aa_length": 931,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_176787.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640252.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000400334.7",
"protein_id": "ENSP00000383188.2",
"transcript_support_level": 1,
"aa_start": 816,
"aa_end": null,
"aa_length": 931,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "n.*415A>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": null,
"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": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "n.*415A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638424.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2531A>G",
"hgvs_p": "p.Tyr844Cys",
"transcript": "ENST00000858614.1",
"protein_id": "ENSP00000528673.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 998,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858614.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000858622.1",
"protein_id": "ENSP00000528681.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 972,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858622.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "NM_001438896.1",
"protein_id": "NP_001425825.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 970,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438896.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000639902.1",
"protein_id": "ENSP00000490965.1",
"transcript_support_level": 5,
"aa_start": 816,
"aa_end": null,
"aa_length": 970,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639902.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000640540.1",
"protein_id": "ENSP00000491620.1",
"transcript_support_level": 5,
"aa_start": 816,
"aa_end": null,
"aa_length": 970,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640540.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000962942.1",
"protein_id": "ENSP00000633001.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 970,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962942.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000962943.1",
"protein_id": "ENSP00000633002.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 970,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962943.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2531A>G",
"hgvs_p": "p.Tyr844Cys",
"transcript": "ENST00000962945.1",
"protein_id": "ENSP00000633004.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 959,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962945.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Tyr838Cys",
"transcript": "ENST00000962946.1",
"protein_id": "ENSP00000633005.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 953,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962946.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Tyr838Cys",
"transcript": "ENST00000962948.1",
"protein_id": "ENSP00000633007.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 953,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962948.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000858615.1",
"protein_id": "ENSP00000528674.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 951,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858615.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2387A>G",
"hgvs_p": "p.Tyr796Cys",
"transcript": "ENST00000962940.1",
"protein_id": "ENSP00000632999.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 950,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962940.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000962947.1",
"protein_id": "ENSP00000633006.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 946,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962947.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2471A>G",
"hgvs_p": "p.Tyr824Cys",
"transcript": "ENST00000927326.1",
"protein_id": "ENSP00000597385.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 939,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927326.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000639174.1",
"protein_id": "ENSP00000492783.1",
"transcript_support_level": 5,
"aa_start": 816,
"aa_end": null,
"aa_length": 936,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639174.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "NM_012327.6",
"protein_id": "NP_036459.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 931,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012327.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.2447A>G",
"hgvs_p": "p.Tyr816Cys",
"transcript": "ENST00000357637.10",
"protein_id": "ENSP00000350263.4",
"transcript_support_level": 5,
"aa_start": 816,
"aa_end": null,
"aa_length": 931,
"cds_start": 2447,
"cds_end": null,
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"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001438896.1",
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Multiple congenital anomalies-hypotonia-seizures syndrome 1|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}