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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: 2-174571944-AGG-CAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174571944&ref=AGG&alt=CAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "WIPF1",
"hgnc_id": 12736,
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001375835.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000236449",
"hgnc_id": null,
"hgvs_c": "n.217+24467_217+24469delAGGinsCAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000442996.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375834.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000679041.1",
"protein_coding": true,
"protein_id": "NP_001362763.1",
"strand": false,
"transcript": "NM_001375834.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679041.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375834.1",
"protein_coding": true,
"protein_id": "ENSP00000503603.1",
"strand": false,
"transcript": "ENST00000679041.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 510,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1533,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000272746.9",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000272746.5",
"strand": false,
"transcript": "ENST00000272746.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359761.7",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352802.3",
"strand": false,
"transcript": "ENST00000359761.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4587,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392547.6",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376330.2",
"strand": false,
"transcript": "ENST00000392547.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 493,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1482,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409891.5",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386431.1",
"strand": false,
"transcript": "ENST00000409891.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 403,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1212,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409415.7",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387150.3",
"strand": false,
"transcript": "ENST00000409415.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000442996.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.217+24467_217+24469delAGGinsCAA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000442996.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 510,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1533,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375835.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362764.1",
"strand": false,
"transcript": "NM_001375835.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077269.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070737.1",
"strand": false,
"transcript": "NM_001077269.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375832.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362761.1",
"strand": false,
"transcript": "NM_001375832.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4751,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375833.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362762.1",
"strand": false,
"transcript": "NM_001375833.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003387.5",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003378.3",
"strand": false,
"transcript": "NM_003387.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392546.6",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376329.2",
"strand": false,
"transcript": "ENST00000392546.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4551,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436221.2",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388454.2",
"strand": false,
"transcript": "ENST00000436221.2",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4570,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698668.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513869.1",
"strand": false,
"transcript": "ENST00000698668.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4628,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698701.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513882.1",
"strand": false,
"transcript": "ENST00000698701.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856317.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526376.1",
"strand": false,
"transcript": "ENST00000856317.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4996,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856318.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526377.1",
"strand": false,
"transcript": "ENST00000856318.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4800,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1512,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856319.1",
"gene_hgnc_id": 12736,
"gene_symbol": "WIPF1",
"hgvs_c": "c.859_861delCCTinsTTG",
"hgvs_p": "p.Pro287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526378.1",
"strand": false,
"transcript": "ENST00000856319.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
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