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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: 19-4090610-GCG-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4090610&ref=GCG&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAP2K2",
"hgnc_id": 6842,
"hgvs_c": "c.1189_1191delCGCinsTTA",
"hgvs_p": "p.Arg397Leu",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_030662.4",
"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": "TAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": 400,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030662.4",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1189_1191delCGCinsTTA",
"hgvs_p": "p.Arg397Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262948.10",
"protein_coding": true,
"protein_id": "NP_109587.1",
"strand": false,
"transcript": "NM_030662.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262948.10",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1189_1191delCGCinsTTA",
"hgvs_p": "p.Arg397Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030662.4",
"protein_coding": true,
"protein_id": "ENSP00000262948.4",
"strand": false,
"transcript": "ENST00000262948.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1378,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945862.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1378_1380delCGCinsTTA",
"hgvs_p": "p.Arg460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615921.1",
"strand": false,
"transcript": "ENST00000945862.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "R",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897166.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1348_1350delCGCinsTTA",
"hgvs_p": "p.Arg450Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567225.1",
"strand": false,
"transcript": "ENST00000897166.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 450,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897161.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1339_1341delCGCinsTTA",
"hgvs_p": "p.Arg447Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567220.1",
"strand": false,
"transcript": "ENST00000897161.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945861.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1330_1332delCGCinsTTA",
"hgvs_p": "p.Arg444Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615920.1",
"strand": false,
"transcript": "ENST00000945861.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945859.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1270_1272delCGCinsTTA",
"hgvs_p": "p.Arg424Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615918.1",
"strand": false,
"transcript": "ENST00000945859.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897160.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1246_1248delCGCinsTTA",
"hgvs_p": "p.Arg416Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567219.1",
"strand": false,
"transcript": "ENST00000897160.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920059.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1228_1230delCGCinsTTA",
"hgvs_p": "p.Arg410Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590118.1",
"strand": false,
"transcript": "ENST00000920059.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920057.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1174_1176delCGCinsTTA",
"hgvs_p": "p.Arg392Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590116.1",
"strand": false,
"transcript": "ENST00000920057.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897162.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1153_1155delCGCinsTTA",
"hgvs_p": "p.Arg385Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567221.1",
"strand": false,
"transcript": "ENST00000897162.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1158,
"cds_start": 1144,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920058.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1144_1146delCGCinsTTA",
"hgvs_p": "p.Arg382Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590117.1",
"strand": false,
"transcript": "ENST00000920058.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1140,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897163.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1126_1128delCGCinsTTA",
"hgvs_p": "p.Arg376Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567222.1",
"strand": false,
"transcript": "ENST00000897163.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897164.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1081_1083delCGCinsTTA",
"hgvs_p": "p.Arg361Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567223.1",
"strand": false,
"transcript": "ENST00000897164.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1056,
"cds_start": 1042,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897165.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.1042_1044delCGCinsTTA",
"hgvs_p": "p.Arg348Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567224.1",
"strand": false,
"transcript": "ENST00000897165.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 307,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 924,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440688.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.910_912delCGCinsTTA",
"hgvs_p": "p.Arg304Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427617.1",
"strand": false,
"transcript": "NM_001440688.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1369,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 861,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945860.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.847_849delCGCinsTTA",
"hgvs_p": "p.Arg283Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615919.1",
"strand": false,
"transcript": "ENST00000945860.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 210,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 633,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440689.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.619_621delCGCinsTTA",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427618.1",
"strand": false,
"transcript": "NM_001440689.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 103,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 314,
"cdna_start": 301,
"cds_end": null,
"cds_length": 312,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599021.1",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "c.298_300delCGCinsTTA",
"hgvs_p": "p.Arg100Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471763.1",
"strand": false,
"transcript": "ENST00000599021.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000394867.9",
"gene_hgnc_id": 6842,
"gene_symbol": "MAP2K2",
"hgvs_c": "n.1628_1630delCGCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000394867.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 552,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
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