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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: 2-69342170-ACT-TCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=69342170&ref=ACT&alt=TCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GFPT1",
"hgnc_id": 4241,
"hgvs_c": "c.1183_1185delAGTinsGGA",
"hgvs_p": "p.Ser395Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001244710.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCC",
"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": "G",
"aa_end": null,
"aa_length": 699,
"aa_ref": "S",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8665,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001244710.2",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1183_1185delAGTinsGGA",
"hgvs_p": "p.Ser395Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357308.9",
"protein_coding": true,
"protein_id": "NP_001231639.1",
"strand": false,
"transcript": "NM_001244710.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 699,
"aa_ref": "S",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8665,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357308.9",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1183_1185delAGTinsGGA",
"hgvs_p": "p.Ser395Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001244710.2",
"protein_coding": true,
"protein_id": "ENSP00000349860.4",
"strand": false,
"transcript": "ENST00000357308.9",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 681,
"aa_ref": "S",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8632,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361060.5",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1129_1131delAGTinsGGA",
"hgvs_p": "p.Ser377Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354347.4",
"strand": false,
"transcript": "ENST00000361060.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 715,
"aa_ref": "S",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6818,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955842.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1231_1233delAGTinsGGA",
"hgvs_p": "p.Ser411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625901.1",
"strand": false,
"transcript": "ENST00000955842.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 709,
"aa_ref": "S",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955849.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1213_1215delAGTinsGGA",
"hgvs_p": "p.Ser405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625908.1",
"strand": false,
"transcript": "ENST00000955849.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 697,
"aa_ref": "S",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852904.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1177_1179delAGTinsGGA",
"hgvs_p": "p.Ser393Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522963.1",
"strand": false,
"transcript": "ENST00000852904.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 681,
"aa_ref": "S",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8611,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002056.4",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1129_1131delAGTinsGGA",
"hgvs_p": "p.Ser377Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002047.2",
"strand": false,
"transcript": "NM_002056.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 680,
"aa_ref": "S",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852902.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1126_1128delAGTinsGGA",
"hgvs_p": "p.Ser376Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522961.1",
"strand": false,
"transcript": "ENST00000852902.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 663,
"aa_ref": "S",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852899.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1075_1077delAGTinsGGA",
"hgvs_p": "p.Ser359Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522958.1",
"strand": false,
"transcript": "ENST00000852899.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 663,
"aa_ref": "S",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955848.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1075_1077delAGTinsGGA",
"hgvs_p": "p.Ser359Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625907.1",
"strand": false,
"transcript": "ENST00000955848.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 657,
"aa_ref": "S",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955843.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1057_1059delAGTinsGGA",
"hgvs_p": "p.Ser353Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625902.1",
"strand": false,
"transcript": "ENST00000955843.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 649,
"aa_ref": "S",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955847.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1033_1035delAGTinsGGA",
"hgvs_p": "p.Ser345Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625906.1",
"strand": false,
"transcript": "ENST00000955847.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 645,
"aa_ref": "S",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852901.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1021_1023delAGTinsGGA",
"hgvs_p": "p.Ser341Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522960.1",
"strand": false,
"transcript": "ENST00000852901.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 645,
"aa_ref": "S",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4591,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852903.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1021_1023delAGTinsGGA",
"hgvs_p": "p.Ser341Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522962.1",
"strand": false,
"transcript": "ENST00000852903.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 643,
"aa_ref": "S",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955845.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1183_1185delAGTinsGGA",
"hgvs_p": "p.Ser395Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625904.1",
"strand": false,
"transcript": "ENST00000955845.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 639,
"aa_ref": "S",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852900.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1003_1005delAGTinsGGA",
"hgvs_p": "p.Ser335Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522959.1",
"strand": false,
"transcript": "ENST00000852900.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 627,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1884,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955846.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.967_969delAGTinsGGA",
"hgvs_p": "p.Ser323Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625905.1",
"strand": false,
"transcript": "ENST00000955846.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "S",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5906,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674507.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1129_1131delAGTinsGGA",
"hgvs_p": "p.Ser377Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501332.1",
"strand": false,
"transcript": "ENST00000674507.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 618,
"aa_ref": "S",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955850.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.1183_1185delAGTinsGGA",
"hgvs_p": "p.Ser395Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625909.1",
"strand": false,
"transcript": "ENST00000955850.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 609,
"aa_ref": "S",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1830,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674438.1",
"gene_hgnc_id": 4241,
"gene_symbol": "GFPT1",
"hgvs_c": "c.913_915delAGTinsGGA",
"hgvs_p": "p.Ser305Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501469.1",
"strand": false,
"transcript": "ENST00000674438.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 591,
"aa_ref": "S",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1776,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
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