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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: 1-145826845-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=145826845&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 145826845,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001303456.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "NM_006468.8",
"protein_id": "NP_006459.3",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 534,
"cds_start": 429,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334163.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006468.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000334163.4",
"protein_id": "ENSP00000334564.3",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 534,
"cds_start": 429,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006468.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334163.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000369294.5",
"protein_id": "ENSP00000358300.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 411,
"cds_start": 429,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369294.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.468A>C",
"hgvs_p": "p.Glu156Asp",
"transcript": "NM_001303456.1",
"protein_id": "NP_001290385.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 547,
"cds_start": 468,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303456.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000698751.1",
"protein_id": "ENSP00000513913.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 534,
"cds_start": 429,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698751.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000970323.1",
"protein_id": "ENSP00000640382.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 534,
"cds_start": 429,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970323.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000970325.1",
"protein_id": "ENSP00000640384.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 524,
"cds_start": 429,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970325.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000891280.1",
"protein_id": "ENSP00000561339.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 507,
"cds_start": 429,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891280.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000891279.1",
"protein_id": "ENSP00000561338.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 484,
"cds_start": 429,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891279.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000891282.1",
"protein_id": "ENSP00000561341.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 468,
"cds_start": 429,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891282.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000970324.1",
"protein_id": "ENSP00000640383.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 457,
"cds_start": 429,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970324.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.177A>C",
"hgvs_p": "p.Glu59Asp",
"transcript": "ENST00000698756.1",
"protein_id": "ENSP00000513915.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 450,
"cds_start": 177,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698756.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000970326.1",
"protein_id": "ENSP00000640385.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 446,
"cds_start": 429,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970326.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000891281.1",
"protein_id": "ENSP00000561340.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 419,
"cds_start": 429,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891281.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.429A>C",
"hgvs_p": "p.Glu143Asp",
"transcript": "ENST00000698761.1",
"protein_id": "ENSP00000513917.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 323,
"cds_start": 429,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698761.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.78A>C",
"hgvs_p": "p.Glu26Asp",
"transcript": "XM_047433903.1",
"protein_id": "XP_047289859.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 417,
"cds_start": 78,
"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": "XM_047433903.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.468A>C",
"hgvs_p": "p.Glu156Asp",
"transcript": "XM_047433954.1",
"protein_id": "XP_047289910.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 338,
"cds_start": 468,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433954.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.468A>C",
"hgvs_p": "p.Glu156Asp",
"transcript": "XM_011509078.4",
"protein_id": "XP_011507380.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 332,
"cds_start": 468,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509078.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "c.468A>C",
"hgvs_p": "p.Glu156Asp",
"transcript": "XM_047434013.1",
"protein_id": "XP_047289969.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 311,
"cds_start": 468,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "n.*127A>C",
"hgvs_p": null,
"transcript": "ENST00000466003.1",
"protein_id": "ENSP00000513919.1",
"transcript_support_level": 3,
"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": "ENST00000466003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "n.*127A>C",
"hgvs_p": null,
"transcript": "ENST00000471254.5",
"protein_id": "ENSP00000513914.1",
"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": "ENST00000471254.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3C",
"gene_hgnc_id": 30076,
"hgvs_c": "n.751A>C",
"hgvs_p": null,
"transcript": "ENST00000698752.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000698752.1"
},
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"verdict": "Likely_benign",
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "POLR3C-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}