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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: 4-539241-CG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=539241&ref=CG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIGG",
"hgnc_id": 25985,
"hgvs_c": "c.2824_2825delCGinsTC",
"hgvs_p": "p.Arg942Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001127178.3",
"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": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": "S",
"aa_end": null,
"aa_length": 983,
"aa_ref": "R",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2824,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127178.3",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2824_2825delCGinsTC",
"hgvs_p": "p.Arg942Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453061.7",
"protein_coding": true,
"protein_id": "NP_001120650.1",
"strand": true,
"transcript": "NM_001127178.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 983,
"aa_ref": "R",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2824,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453061.7",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2824_2825delCGinsTC",
"hgvs_p": "p.Arg942Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127178.3",
"protein_coding": true,
"protein_id": "ENSP00000415203.2",
"strand": true,
"transcript": "ENST00000453061.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "R",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 2503,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000383028.8",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2425_2426delCGinsTC",
"hgvs_p": "p.Arg809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372494.4",
"strand": true,
"transcript": "ENST00000383028.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000508144.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "n.439_440delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000508144.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000513192.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "n.1957_1958delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513192.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000513239.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "n.3231_3232delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513239.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 2926,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2800,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017733.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2800_2801delCGinsTC",
"hgvs_p": "p.Arg934Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060203.3",
"strand": true,
"transcript": "NM_017733.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 2915,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2800,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000310340.9",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2800_2801delCGinsTC",
"hgvs_p": "p.Arg934Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311750.5",
"strand": true,
"transcript": "ENST00000310340.9",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 2666,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868086.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2614_2615delCGinsTC",
"hgvs_p": "p.Arg872Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538145.1",
"strand": true,
"transcript": "ENST00000868086.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 912,
"aa_ref": "R",
"aa_start": 871,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2611,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868087.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2611_2612delCGinsTC",
"hgvs_p": "p.Arg871Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538146.1",
"strand": true,
"transcript": "ENST00000868087.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2759,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2557,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289051.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2557_2558delCGinsTC",
"hgvs_p": "p.Arg853Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275980.1",
"strand": true,
"transcript": "NM_001289051.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 3186,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2557,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345986.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2557_2558delCGinsTC",
"hgvs_p": "p.Arg853Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332915.1",
"strand": true,
"transcript": "NM_001345986.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2557,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000504346.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2557_2558delCGinsTC",
"hgvs_p": "p.Arg853Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424800.1",
"strand": true,
"transcript": "ENST00000504346.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 886,
"aa_ref": "R",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 3162,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345987.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2533_2534delCGinsTC",
"hgvs_p": "p.Arg845Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332916.1",
"strand": true,
"transcript": "NM_001345987.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "R",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289052.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2425_2426delCGinsTC",
"hgvs_p": "p.Arg809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275981.1",
"strand": true,
"transcript": "NM_001289052.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1867,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936869.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1867_1868delCGinsTC",
"hgvs_p": "p.Arg623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606928.1",
"strand": true,
"transcript": "ENST00000936869.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 3044,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345988.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1795_1796delCGinsTC",
"hgvs_p": "p.Arg599Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332917.1",
"strand": true,
"transcript": "NM_001345988.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 3300,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1726,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345994.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1726_1727delCGinsTC",
"hgvs_p": "p.Arg576Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332923.1",
"strand": true,
"transcript": "NM_001345994.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 3042,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345990.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1291_1292delCGinsTC",
"hgvs_p": "p.Arg431Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332919.1",
"strand": true,
"transcript": "NM_001345990.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 3140,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345991.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1291_1292delCGinsTC",
"hgvs_p": "p.Arg431Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332920.1",
"strand": true,
"transcript": "NM_001345991.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 861,
"aa_ref": "R",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 2586,
"cds_start": 2458,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047415846.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2458_2459delCGinsTC",
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