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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: 18-62090521-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=62090521&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PM5",
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIGN",
"hgnc_id": 8967,
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -14,
"transcript": "NM_001438896.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM5,BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -14,
"allele_count_reference_population": 1926,
"alphamissense_prediction": null,
"alphamissense_score": 0.0479,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "18",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Inborn genetic diseases,Multiple congenital anomalies-hypotonia-seizures syndrome 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0064452290534973145,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 931,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7936,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_176787.5",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000640252.2",
"protein_coding": true,
"protein_id": "NP_789744.1",
"strand": false,
"transcript": "NM_176787.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 931,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7936,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000640252.2",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_176787.5",
"protein_coding": true,
"protein_id": "ENSP00000492233.1",
"strand": false,
"transcript": "ENST00000640252.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 931,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4456,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000400334.7",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383188.2",
"strand": false,
"transcript": "ENST00000400334.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000638424.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "n.2238A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491963.1",
"strand": false,
"transcript": "ENST00000638424.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 998,
"aa_ref": "I",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4835,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2322,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000858614.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2322A>G",
"hgvs_p": "p.Ile774Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528673.1",
"strand": false,
"transcript": "ENST00000858614.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 972,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": 2644,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000858622.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528681.1",
"strand": false,
"transcript": "ENST00000858622.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 970,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8053,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001438896.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425825.1",
"strand": false,
"transcript": "NM_001438896.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 970,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4439,
"cdna_start": 2542,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000639902.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490965.1",
"strand": false,
"transcript": "ENST00000639902.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 970,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 2446,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000640540.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491620.1",
"strand": false,
"transcript": "ENST00000640540.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 970,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000962942.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633001.1",
"strand": false,
"transcript": "ENST00000962942.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 970,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000962943.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633002.1",
"strand": false,
"transcript": "ENST00000962943.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 959,
"aa_ref": "I",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2322,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000962945.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2322A>G",
"hgvs_p": "p.Ile774Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633004.1",
"strand": false,
"transcript": "ENST00000962945.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 953,
"aa_ref": "I",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": 2508,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2304,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000962946.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2304A>G",
"hgvs_p": "p.Ile768Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633005.1",
"strand": false,
"transcript": "ENST00000962946.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 953,
"aa_ref": "I",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": 2616,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2304,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000962948.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2304A>G",
"hgvs_p": "p.Ile768Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633007.1",
"strand": false,
"transcript": "ENST00000962948.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 951,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000858615.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528674.1",
"strand": false,
"transcript": "ENST00000858615.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 950,
"aa_ref": "I",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4284,
"cdna_start": 2377,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2178,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000962940.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2178A>G",
"hgvs_p": "p.Ile726Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632999.1",
"strand": false,
"transcript": "ENST00000962940.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 946,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000962947.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633006.1",
"strand": false,
"transcript": "ENST00000962947.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 939,
"aa_ref": "I",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 2477,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2262,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000927326.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2262A>G",
"hgvs_p": "p.Ile754Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597385.1",
"strand": false,
"transcript": "ENST00000927326.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 936,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4095,
"cdna_start": 2546,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000639174.1",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492783.1",
"strand": false,
"transcript": "ENST00000639174.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 931,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7859,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_012327.6",
"gene_hgnc_id": 8967,
"gene_symbol": "PIGN",
"hgvs_c": "c.2238A>G",
"hgvs_p": "p.Ile746Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036459.1",
"strand": false,
"transcript": "NM_012327.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 931,
"aa_ref": "I",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4723,
"cdna_start": 2542,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 30,
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