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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: 19-47039518-GTC-ATT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47039518&ref=GTC&alt=ATT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "NPAS1",
"hgnc_id": 7894,
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002517.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": "I",
"aa_end": null,
"aa_length": 590,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1773,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002517.4",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000602212.6",
"protein_coding": true,
"protein_id": "NP_002508.2",
"strand": true,
"transcript": "NM_002517.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 590,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1773,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602212.6",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002517.4",
"protein_coding": true,
"protein_id": "ENSP00000469142.1",
"strand": true,
"transcript": "ENST00000602212.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 590,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1773,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449844.6",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405290.1",
"strand": true,
"transcript": "ENST00000449844.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 650,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2265,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1953,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906441.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576500.1",
"strand": true,
"transcript": "ENST00000906441.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 590,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1773,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906440.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576499.1",
"strand": true,
"transcript": "ENST00000906440.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 590,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1957,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1773,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941427.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611486.1",
"strand": true,
"transcript": "ENST00000941427.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 590,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1773,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941428.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611487.1",
"strand": true,
"transcript": "ENST00000941428.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 506,
"aa_ref": "V",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1521,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940003.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.919_921delGTCinsATT",
"hgvs_p": "p.Val307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610062.1",
"strand": true,
"transcript": "ENST00000940003.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 415,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 710,
"cds_end": null,
"cds_length": 1248,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602189.5",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.391_393delGTCinsATT",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472679.1",
"strand": true,
"transcript": "ENST00000602189.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 234,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1370,
"cdna_start": 436,
"cds_end": null,
"cds_length": 705,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321086.2",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.388_390delGTCinsATT",
"hgvs_p": "p.Val130Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308015.1",
"strand": true,
"transcript": "NM_001321086.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 234,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1341,
"cdna_start": 424,
"cds_end": null,
"cds_length": 705,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439365.6",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.388_390delGTCinsATT",
"hgvs_p": "p.Val130Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398689.2",
"strand": true,
"transcript": "ENST00000439365.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 213,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 763,
"cdna_start": 509,
"cds_end": null,
"cds_length": 642,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000594670.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.388_390delGTCinsATT",
"hgvs_p": "p.Val130Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472075.1",
"strand": true,
"transcript": "ENST00000594670.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 650,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1953,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438881.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294837.1",
"strand": true,
"transcript": "XM_047438881.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 591,
"aa_ref": "V",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1776,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438882.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.919_921delGTCinsATT",
"hgvs_p": "p.Val307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294838.1",
"strand": true,
"transcript": "XM_047438882.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 521,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1566,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438883.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294839.1",
"strand": true,
"transcript": "XM_047438883.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 436,
"cds_end": null,
"cds_length": 1425,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438884.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.388_390delGTCinsATT",
"hgvs_p": "p.Val130Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294840.1",
"strand": true,
"transcript": "XM_047438884.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 454,
"aa_ref": "V",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1365,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438885.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.919_921delGTCinsATT",
"hgvs_p": "p.Val307Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294841.1",
"strand": true,
"transcript": "XM_047438885.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 453,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1362,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438886.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.916_918delGTCinsATT",
"hgvs_p": "p.Val306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294842.1",
"strand": true,
"transcript": "XM_047438886.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 414,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 436,
"cds_end": null,
"cds_length": 1245,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438887.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.388_390delGTCinsATT",
"hgvs_p": "p.Val130Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294843.1",
"strand": true,
"transcript": "XM_047438887.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 345,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 436,
"cds_end": null,
"cds_length": 1038,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438888.1",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.388_390delGTCinsATT",
"hgvs_p": "p.Val130Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294844.1",
"strand": true,
"transcript": "XM_047438888.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026844.2",
"gene_hgnc_id": 7894,
"gene_symbol": "NPAS1",
"hgvs_c": "c.570-926_570-924delGTCinsATT",
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