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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: 3-8630808-GAC-CAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=8630808&ref=GAC&alt=CAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SSUH2",
"hgnc_id": 24809,
"hgvs_c": "c.520_522delGTCinsCTG",
"hgvs_p": "p.Val174Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001256748.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1128,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256748.3",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.520_522delGTCinsCTG",
"hgvs_p": "p.Val174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000544814.7",
"protein_coding": true,
"protein_id": "NP_001243677.1",
"strand": false,
"transcript": "NM_001256748.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1128,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544814.7",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.520_522delGTCinsCTG",
"hgvs_p": "p.Val174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256748.3",
"protein_coding": true,
"protein_id": "ENSP00000439378.1",
"strand": false,
"transcript": "ENST00000544814.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 725,
"cds_end": null,
"cds_length": 909,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341795.7",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.301_303delGTCinsCTG",
"hgvs_p": "p.Val101Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339150.4",
"strand": false,
"transcript": "ENST00000341795.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 566,
"cds_end": null,
"cds_length": 909,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420394.5",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.301_303delGTCinsCTG",
"hgvs_p": "p.Val101Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390328.2",
"strand": false,
"transcript": "ENST00000420394.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000413305.5",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "n.*297_*299delGTCinsCTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000388845.1",
"strand": false,
"transcript": "ENST00000413305.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000413305.5",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "n.*297_*299delGTCinsCTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000388845.1",
"strand": false,
"transcript": "ENST00000413305.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 589,
"cds_end": null,
"cds_length": 909,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256749.3",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.301_303delGTCinsCTG",
"hgvs_p": "p.Val101Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243678.1",
"strand": false,
"transcript": "NM_001256749.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 735,
"cds_end": null,
"cds_length": 909,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015931.4",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.301_303delGTCinsCTG",
"hgvs_p": "p.Val101Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057015.2",
"strand": false,
"transcript": "NM_015931.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 909,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317371.8",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.301_303delGTCinsCTG",
"hgvs_p": "p.Val101Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324551.5",
"strand": false,
"transcript": "ENST00000317371.8",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 909,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435138.5",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.301_303delGTCinsCTG",
"hgvs_p": "p.Val101Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412333.2",
"strand": false,
"transcript": "ENST00000435138.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006511.2",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862000.1",
"strand": false,
"transcript": "XM_017006511.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006512.2",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862001.1",
"strand": false,
"transcript": "XM_017006512.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 2203,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006513.2",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862002.1",
"strand": false,
"transcript": "XM_017006513.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006514.2",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862003.1",
"strand": false,
"transcript": "XM_017006514.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006515.2",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862004.1",
"strand": false,
"transcript": "XM_017006515.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006516.2",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862005.1",
"strand": false,
"transcript": "XM_017006516.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006517.2",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862006.1",
"strand": false,
"transcript": "XM_017006517.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448230.1",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304186.1",
"strand": false,
"transcript": "XM_047448230.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448231.1",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304187.1",
"strand": false,
"transcript": "XM_047448231.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448233.1",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
"hgvs_c": "c.1069_1071delGTCinsCTG",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304189.1",
"strand": false,
"transcript": "XM_047448233.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 2440,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448234.1",
"gene_hgnc_id": 24809,
"gene_symbol": "SSUH2",
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]
}