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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: 1-11952733-AGG-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11952733&ref=AGG&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLOD1",
"hgnc_id": 9081,
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000196061.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 727,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 629,
"cds_end": null,
"cds_length": 2184,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000196061.5",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000302.4",
"protein_coding": true,
"protein_id": "ENSP00000196061.4",
"strand": true,
"transcript": "ENST00000196061.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 640,
"cds_end": null,
"cds_length": 2184,
"cds_start": 577,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000302.4",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.577_579delAGGinsCGA",
"hgvs_p": "p.194",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000196061.5",
"protein_coding": true,
"protein_id": "NP_000293.2",
"strand": true,
"transcript": "NM_000302.4",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 775,
"aa_ref": "DP",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 880,
"cds_end": null,
"cds_length": 2328,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854019.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.710_712delAGGinsCGA",
"hgvs_p": "p.AspPro237AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524078.1",
"strand": true,
"transcript": "ENST00000854019.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 756,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 621,
"cds_end": null,
"cds_length": 2271,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854031.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524090.1",
"strand": true,
"transcript": "ENST00000854031.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 756,
"aa_ref": "DP",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 684,
"cds_end": null,
"cds_length": 2271,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854033.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.653_655delAGGinsCGA",
"hgvs_p": "p.AspPro218AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524092.1",
"strand": true,
"transcript": "ENST00000854033.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 740,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 629,
"cds_end": null,
"cds_length": 2223,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960558.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630617.1",
"strand": true,
"transcript": "ENST00000960558.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 736,
"aa_ref": "DP",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 695,
"cds_end": null,
"cds_length": 2211,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854021.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.593_595delAGGinsCGA",
"hgvs_p": "p.AspPro198AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524080.1",
"strand": true,
"transcript": "ENST00000854021.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 734,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 621,
"cds_end": null,
"cds_length": 2205,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934212.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604271.1",
"strand": true,
"transcript": "ENST00000934212.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 726,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 635,
"cds_end": null,
"cds_length": 2181,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854027.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524086.1",
"strand": true,
"transcript": "ENST00000854027.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 725,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 656,
"cds_end": null,
"cds_length": 2178,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854022.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524081.1",
"strand": true,
"transcript": "ENST00000854022.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 725,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 652,
"cds_end": null,
"cds_length": 2178,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854026.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524085.1",
"strand": true,
"transcript": "ENST00000854026.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 725,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 629,
"cds_end": null,
"cds_length": 2178,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854028.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524087.1",
"strand": true,
"transcript": "ENST00000854028.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 716,
"aa_ref": "DP",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 582,
"cds_end": null,
"cds_length": 2151,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854032.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.533_535delAGGinsCGA",
"hgvs_p": "p.AspPro178AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524091.1",
"strand": true,
"transcript": "ENST00000854032.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 714,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 609,
"cds_end": null,
"cds_length": 2145,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934214.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604273.1",
"strand": true,
"transcript": "ENST00000934214.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 712,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 630,
"cds_end": null,
"cds_length": 2139,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854029.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524088.1",
"strand": true,
"transcript": "ENST00000854029.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 702,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 657,
"cds_end": null,
"cds_length": 2109,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854023.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524082.1",
"strand": true,
"transcript": "ENST00000854023.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 693,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 629,
"cds_end": null,
"cds_length": 2082,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854030.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524089.1",
"strand": true,
"transcript": "ENST00000854030.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 692,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 769,
"cds_end": null,
"cds_length": 2079,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934210.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604269.1",
"strand": true,
"transcript": "ENST00000934210.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 689,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": 632,
"cds_end": null,
"cds_length": 2070,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934211.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604270.1",
"strand": true,
"transcript": "ENST00000934211.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 685,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 654,
"cds_end": null,
"cds_length": 2058,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854024.1",
"gene_hgnc_id": 9081,
"gene_symbol": "PLOD1",
"hgvs_c": "c.566_568delAGGinsCGA",
"hgvs_p": "p.AspPro189AlaThr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524083.1",
"strand": true,
"transcript": "ENST00000854024.1",
"transcript_support_level": null
},
{
"aa_alt": "AT",
"aa_end": null,
"aa_length": 685,
"aa_ref": "DP",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 612,
"cds_end": null,
"cds_length": 2058,
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