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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: 1-2175249-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2175249&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2175249,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002744.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1511G>C",
"hgvs_p": "p.Arg504Pro",
"transcript": "NM_002744.6",
"protein_id": "NP_002735.3",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 592,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378567.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002744.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1511G>C",
"hgvs_p": "p.Arg504Pro",
"transcript": "ENST00000378567.8",
"protein_id": "ENSP00000367830.3",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 592,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002744.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378567.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.962G>C",
"hgvs_p": "p.Arg321Pro",
"transcript": "ENST00000400921.6",
"protein_id": "ENSP00000383712.2",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 409,
"cds_start": 962,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400921.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1784G>C",
"hgvs_p": "p.Arg595Pro",
"transcript": "ENST00000965048.1",
"protein_id": "ENSP00000635107.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 683,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965048.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"transcript": "ENST00000877863.1",
"protein_id": "ENSP00000547922.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 600,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877863.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1526G>C",
"hgvs_p": "p.Arg509Pro",
"transcript": "ENST00000877864.1",
"protein_id": "ENSP00000547923.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 597,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877864.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1424G>C",
"hgvs_p": "p.Arg475Pro",
"transcript": "ENST00000877862.1",
"protein_id": "ENSP00000547921.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 563,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877862.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1244G>C",
"hgvs_p": "p.Arg415Pro",
"transcript": "ENST00000926524.1",
"protein_id": "ENSP00000596583.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 503,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926524.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1199G>C",
"hgvs_p": "p.Arg400Pro",
"transcript": "NM_001242874.3",
"protein_id": "NP_001229803.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 488,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242874.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1199G>C",
"hgvs_p": "p.Arg400Pro",
"transcript": "ENST00000461106.6",
"protein_id": "ENSP00000426412.1",
"transcript_support_level": 2,
"aa_start": 400,
"aa_end": null,
"aa_length": 488,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461106.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.986G>C",
"hgvs_p": "p.Arg329Pro",
"transcript": "NM_001350803.2",
"protein_id": "NP_001337732.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 417,
"cds_start": 986,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350803.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.986G>C",
"hgvs_p": "p.Arg329Pro",
"transcript": "NM_001350804.2",
"protein_id": "NP_001337733.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 417,
"cds_start": 986,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350804.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.962G>C",
"hgvs_p": "p.Arg321Pro",
"transcript": "NM_001033581.3",
"protein_id": "NP_001028753.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 409,
"cds_start": 962,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033581.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.962G>C",
"hgvs_p": "p.Arg321Pro",
"transcript": "NM_001033582.3",
"protein_id": "NP_001028754.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 409,
"cds_start": 962,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033582.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Arg267Pro",
"transcript": "NM_001350805.2",
"protein_id": "NP_001337734.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 355,
"cds_start": 800,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350805.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Arg267Pro",
"transcript": "NM_001350806.2",
"protein_id": "NP_001337735.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 355,
"cds_start": 800,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350806.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"transcript": "XM_017001789.2",
"protein_id": "XP_016857278.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 603,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001789.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"transcript": "XM_017001790.2",
"protein_id": "XP_016857279.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 600,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001790.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1511G>C",
"hgvs_p": "p.Arg504Pro",
"transcript": "XM_011541773.2",
"protein_id": "XP_011540075.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 595,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541773.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Arg499Pro",
"transcript": "XM_047425255.1",
"protein_id": "XP_047281211.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 587,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425255.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1397G>C",
"hgvs_p": "p.Arg466Pro",
"transcript": "XM_047425260.1",
"protein_id": "XP_047281216.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 557,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425260.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1373G>C",
"hgvs_p": "p.Arg458Pro",
"transcript": "XM_047425262.1",
"protein_id": "XP_047281218.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 546,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002744.6",
"gene_symbol": "PRKCZ",
"hgnc_id": 9412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1511G>C",
"hgvs_p": "p.Arg504Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}