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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: 15-70057528-GGG-TGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70057528&ref=GGG&alt=TGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TLE3",
"hgnc_id": 11839,
"hgvs_c": "c.1210_1212delCCCinsTCA",
"hgvs_p": "p.Pro404Ser",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001438147.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"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": "S",
"aa_end": null,
"aa_length": 769,
"aa_ref": "P",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5736,
"cdna_start": 2301,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001105192.3",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1180_1182delCCCinsTCA",
"hgvs_p": "p.Pro394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000451782.7",
"protein_coding": true,
"protein_id": "NP_001098662.1",
"strand": false,
"transcript": "NM_001105192.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 769,
"aa_ref": "P",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5736,
"cdna_start": 2301,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000451782.7",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1180_1182delCCCinsTCA",
"hgvs_p": "p.Pro394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001105192.3",
"protein_coding": true,
"protein_id": "ENSP00000394717.3",
"strand": false,
"transcript": "ENST00000451782.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 772,
"aa_ref": "P",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6004,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558939.5",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1189_1191delCCCinsTCA",
"hgvs_p": "p.Pro397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452871.1",
"strand": false,
"transcript": "ENST00000558939.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 767,
"aa_ref": "P",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558379.5",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1189_1191delCCCinsTCA",
"hgvs_p": "p.Pro397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453435.1",
"strand": false,
"transcript": "ENST00000558379.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 764,
"aa_ref": "P",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557907.5",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1180_1182delCCCinsTCA",
"hgvs_p": "p.Pro394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453107.1",
"strand": false,
"transcript": "ENST00000557907.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 764,
"aa_ref": "P",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3683,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557997.5",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1180_1182delCCCinsTCA",
"hgvs_p": "p.Pro394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453083.1",
"strand": false,
"transcript": "ENST00000557997.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 760,
"aa_ref": "P",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": 2257,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317509.12",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1153_1155delCCCinsTCA",
"hgvs_p": "p.Pro385Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319233.8",
"strand": false,
"transcript": "ENST00000317509.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 782,
"aa_ref": "P",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559929.5",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1219_1221delCCCinsTCA",
"hgvs_p": "p.Pro407Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453081.1",
"strand": false,
"transcript": "ENST00000559929.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5766,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438147.1",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1210_1212delCCCinsTCA",
"hgvs_p": "p.Pro404Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425076.1",
"strand": false,
"transcript": "NM_001438147.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5756,
"cdna_start": 2329,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952208.1",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1210_1212delCCCinsTCA",
"hgvs_p": "p.Pro404Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622267.1",
"strand": false,
"transcript": "ENST00000952208.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 778,
"aa_ref": "P",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2766,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558201.5",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1207_1209delCCCinsTCA",
"hgvs_p": "p.Pro403Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452881.1",
"strand": false,
"transcript": "ENST00000558201.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 774,
"aa_ref": "P",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5751,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438148.1",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1210_1212delCCCinsTCA",
"hgvs_p": "p.Pro404Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425077.1",
"strand": false,
"transcript": "NM_001438148.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 774,
"aa_ref": "P",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000560939.5",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1195_1197delCCCinsTCA",
"hgvs_p": "p.Pro399Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452933.1",
"strand": false,
"transcript": "ENST00000560939.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 772,
"aa_ref": "P",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5745,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005078.4",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1189_1191delCCCinsTCA",
"hgvs_p": "p.Pro397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005069.2",
"strand": false,
"transcript": "NM_005078.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 772,
"aa_ref": "P",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559048.5",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1204_1206delCCCinsTCA",
"hgvs_p": "p.Pro402Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453760.1",
"strand": false,
"transcript": "ENST00000559048.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 768,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5311,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952209.1",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1177_1179delCCCinsTCA",
"hgvs_p": "p.Pro393Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622268.1",
"strand": false,
"transcript": "ENST00000952209.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 767,
"aa_ref": "P",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282980.2",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1189_1191delCCCinsTCA",
"hgvs_p": "p.Pro397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269909.1",
"strand": false,
"transcript": "NM_001282980.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 766,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5727,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438836.1",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1186_1188delCCCinsTCA",
"hgvs_p": "p.Pro396Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425765.1",
"strand": false,
"transcript": "NM_001438836.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 764,
"aa_ref": "P",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5721,
"cdna_start": 2301,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282979.2",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1180_1182delCCCinsTCA",
"hgvs_p": "p.Pro394Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269908.1",
"strand": false,
"transcript": "NM_001282979.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 763,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5718,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438837.1",
"gene_hgnc_id": 11839,
"gene_symbol": "TLE3",
"hgvs_c": "c.1177_1179delCCCinsTCA",
"hgvs_p": "p.Pro393Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425766.1",
"strand": false,
"transcript": "NM_001438837.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 762,
"aa_ref": "P",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
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}