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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: 4-47665205-ACT-CCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47665205&ref=ACT&alt=CCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CORIN",
"hgnc_id": 19012,
"hgvs_c": "c.1414_1416delAGTinsGGG",
"hgvs_p": "p.Ser472Gly",
"inheritance_mode": "Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_006587.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": "G",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 3129,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006587.4",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1414_1416delAGTinsGGG",
"hgvs_p": "p.Ser472Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000273857.9",
"protein_coding": true,
"protein_id": "NP_006578.2",
"strand": false,
"transcript": "NM_006587.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 3129,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000273857.9",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1414_1416delAGTinsGGG",
"hgvs_p": "p.Ser472Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006587.4",
"protein_coding": true,
"protein_id": "ENSP00000273857.4",
"strand": false,
"transcript": "ENST00000273857.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 3204,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961995.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1414_1416delAGTinsGGG",
"hgvs_p": "p.Ser472Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632054.1",
"strand": false,
"transcript": "ENST00000961995.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "S",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 3111,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961980.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1396_1398delAGTinsGGG",
"hgvs_p": "p.Ser466Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632039.1",
"strand": false,
"transcript": "ENST00000961980.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "S",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961985.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1333_1335delAGTinsGGG",
"hgvs_p": "p.Ser445Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632044.1",
"strand": false,
"transcript": "ENST00000961985.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "S",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 3036,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961989.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1429_1431delAGTinsGGG",
"hgvs_p": "p.Ser477Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632048.1",
"strand": false,
"transcript": "ENST00000961989.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 3021,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891633.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1414_1416delAGTinsGGG",
"hgvs_p": "p.Ser472Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561692.1",
"strand": false,
"transcript": "ENST00000891633.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 3021,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891636.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1306_1308delAGTinsGGG",
"hgvs_p": "p.Ser436Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561695.1",
"strand": false,
"transcript": "ENST00000891636.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "S",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 3018,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505909.5",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1303_1305delAGTinsGGG",
"hgvs_p": "p.Ser435Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425401.1",
"strand": false,
"transcript": "ENST00000505909.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "S",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4892,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 3015,
"cds_start": 1300,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891632.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1300_1302delAGTinsGGG",
"hgvs_p": "p.Ser434Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561691.1",
"strand": false,
"transcript": "ENST00000891632.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 3012,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961993.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1414_1416delAGTinsGGG",
"hgvs_p": "p.Ser472Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632052.1",
"strand": false,
"transcript": "ENST00000961993.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 979,
"aa_ref": "S",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961994.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1333_1335delAGTinsGGG",
"hgvs_p": "p.Ser445Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632053.1",
"strand": false,
"transcript": "ENST00000961994.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 975,
"aa_ref": "S",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502252.5",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1213_1215delAGTinsGGG",
"hgvs_p": "p.Ser405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424212.1",
"strand": false,
"transcript": "ENST00000502252.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 970,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4788,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 2913,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961982.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1306_1308delAGTinsGGG",
"hgvs_p": "p.Ser436Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632041.1",
"strand": false,
"transcript": "ENST00000961982.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 969,
"aa_ref": "S",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3713,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 2910,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891635.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1195_1197delAGTinsGGG",
"hgvs_p": "p.Ser399Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561694.1",
"strand": false,
"transcript": "ENST00000891635.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 969,
"aa_ref": "S",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4782,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 2910,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961984.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1195_1197delAGTinsGGG",
"hgvs_p": "p.Ser399Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632043.1",
"strand": false,
"transcript": "ENST00000961984.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 969,
"aa_ref": "S",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4748,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 2910,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961988.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1303_1305delAGTinsGGG",
"hgvs_p": "p.Ser435Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632047.1",
"strand": false,
"transcript": "ENST00000961988.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 967,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 2904,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961991.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1306_1308delAGTinsGGG",
"hgvs_p": "p.Ser436Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632050.1",
"strand": false,
"transcript": "ENST00000961991.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 939,
"aa_ref": "S",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4663,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 2820,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891634.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1213_1215delAGTinsGGG",
"hgvs_p": "p.Ser405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561693.1",
"strand": false,
"transcript": "ENST00000891634.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 938,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 2817,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278585.2",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.1102_1104delAGTinsGGG",
"hgvs_p": "p.Ser368Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265514.1",
"strand": false,
"transcript": "NM_001278585.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 938,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 2817,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000610355.4",
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