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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: 3-159764732-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=159764732&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IQCJ-SCHIP1",
"hgnc_id": 38842,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001197113.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCHIP1",
"hgnc_id": 15678,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_014575.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0798,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17598587274551392,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1464,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014575.4",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000638749.2",
"protein_coding": true,
"protein_id": "NP_055390.1",
"strand": true,
"transcript": "NM_014575.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1464,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000638749.2",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014575.4",
"protein_coding": true,
"protein_id": "ENSP00000491030.1",
"strand": true,
"transcript": "ENST00000638749.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 750,
"cds_end": null,
"cds_length": 1692,
"cds_start": 581,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000485419.7",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420182.1",
"strand": true,
"transcript": "ENST00000485419.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 419,
"cds_end": null,
"cds_length": 1425,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000412423.8",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400942.2",
"strand": true,
"transcript": "ENST00000412423.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 451,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 513,
"cds_end": null,
"cds_length": 1356,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000460298.3",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417305.3",
"strand": true,
"transcript": "ENST00000460298.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1692,
"cds_start": 581,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001197113.2",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184042.1",
"strand": true,
"transcript": "NM_001197113.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1611,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001197114.2",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Pro167Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184043.1",
"strand": true,
"transcript": "NM_001197114.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 631,
"cds_end": null,
"cds_length": 1611,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001414414.1",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Pro167Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401343.1",
"strand": true,
"transcript": "NM_001414414.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1611,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000476809.7",
"gene_hgnc_id": 38842,
"gene_symbol": "IQCJ-SCHIP1",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Pro167Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418692.1",
"strand": true,
"transcript": "ENST00000476809.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "P",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 443,
"cds_end": null,
"cds_length": 1455,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414415.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401344.1",
"strand": true,
"transcript": "NM_001414415.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1425,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001197107.2",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Pro118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184036.1",
"strand": true,
"transcript": "NM_001197107.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1410,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414416.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401345.1",
"strand": true,
"transcript": "NM_001414416.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 467,
"aa_ref": "P",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 336,
"cds_end": null,
"cds_length": 1404,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414417.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401346.1",
"strand": true,
"transcript": "NM_001414417.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1383,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394282.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381211.1",
"strand": true,
"transcript": "NM_001394282.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1383,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394283.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381212.1",
"strand": true,
"transcript": "NM_001394283.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1383,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394284.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381213.1",
"strand": true,
"transcript": "NM_001394284.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 320,
"cds_end": null,
"cds_length": 1383,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394285.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381214.1",
"strand": true,
"transcript": "NM_001394285.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1383,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394286.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381215.1",
"strand": true,
"transcript": "NM_001394286.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1383,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414418.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401347.1",
"strand": true,
"transcript": "NM_001414418.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1383,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001414419.1",
"gene_hgnc_id": 15678,
"gene_symbol": "SCHIP1",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401348.1",
"strand": true,
"transcript": "NM_001414419.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 330,
"cds_end": null,
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