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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: 1-236897020-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236897020&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236897020,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000366577.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3613G>T",
"hgvs_p": "p.Glu1205*",
"transcript": "NM_000254.3",
"protein_id": "NP_000245.2",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3613,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 4025,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "ENST00000366577.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3613G>T",
"hgvs_p": "p.Glu1205*",
"transcript": "ENST00000366577.10",
"protein_id": "ENSP00000355536.5",
"transcript_support_level": 1,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3613,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 4025,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "NM_000254.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3460G>T",
"hgvs_p": "p.Glu1154*",
"transcript": "ENST00000535889.6",
"protein_id": "ENSP00000441845.1",
"transcript_support_level": 1,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3460,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2275G>T",
"hgvs_p": "p.Glu759*",
"transcript": "ENST00000366576.3",
"protein_id": "ENSP00000355535.3",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 819,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 5234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3460G>T",
"hgvs_p": "p.Glu1154*",
"transcript": "NM_001291939.1",
"protein_id": "NP_001278868.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3460,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3883,
"cdna_end": null,
"cdna_length": 10405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3433G>T",
"hgvs_p": "p.Glu1145*",
"transcript": "ENST00000681102.1",
"protein_id": "ENSP00000505600.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3433,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 3433,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3424G>T",
"hgvs_p": "p.Glu1142*",
"transcript": "NM_001410942.1",
"protein_id": "NP_001397871.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3424,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3836,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3424G>T",
"hgvs_p": "p.Glu1142*",
"transcript": "ENST00000679842.1",
"protein_id": "ENSP00000506109.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1202,
"cds_start": 3424,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 3424,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3265G>T",
"hgvs_p": "p.Glu1089*",
"transcript": "ENST00000674797.2",
"protein_id": "ENSP00000502299.2",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1149,
"cds_start": 3265,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3810,
"cdna_end": null,
"cdna_length": 10332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3175G>T",
"hgvs_p": "p.Glu1059*",
"transcript": "ENST00000681177.1",
"protein_id": "ENSP00000506327.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3175,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Glu798*",
"transcript": "NM_001291940.2",
"protein_id": "NP_001278869.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 858,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 10434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3781G>T",
"hgvs_p": "p.Glu1261*",
"transcript": "XM_011544194.4",
"protein_id": "XP_011542496.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3781,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3821,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3628G>T",
"hgvs_p": "p.Glu1210*",
"transcript": "XM_017001329.3",
"protein_id": "XP_016856818.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3668,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3610G>T",
"hgvs_p": "p.Glu1204*",
"transcript": "XM_005273141.6",
"protein_id": "XP_005273198.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3610,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 10555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3592G>T",
"hgvs_p": "p.Glu1198*",
"transcript": "XM_017001330.3",
"protein_id": "XP_016856819.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3592,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3632,
"cdna_end": null,
"cdna_length": 10154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3457G>T",
"hgvs_p": "p.Glu1153*",
"transcript": "XM_047421182.1",
"protein_id": "XP_047277138.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3457,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 10402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3439G>T",
"hgvs_p": "p.Glu1147*",
"transcript": "XM_047421183.1",
"protein_id": "XP_047277139.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3439,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 3479,
"cdna_end": null,
"cdna_length": 10001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3421G>T",
"hgvs_p": "p.Glu1141*",
"transcript": "XM_047421185.1",
"protein_id": "XP_047277141.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3421,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3844,
"cdna_end": null,
"cdna_length": 10366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.3271G>T",
"hgvs_p": "p.Glu1091*",
"transcript": "XM_047421186.1",
"protein_id": "XP_047277142.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3694,
"cdna_end": null,
"cdna_length": 10216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2677G>T",
"hgvs_p": "p.Glu893*",
"transcript": "XM_047421187.1",
"protein_id": "XP_047277143.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 953,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2766,
"cdna_end": null,
"cdna_length": 9288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.4343G>T",
"hgvs_p": null,
"transcript": "ENST00000470570.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*2655G>T",
"hgvs_p": null,
"transcript": "ENST00000650888.1",
"protein_id": "ENSP00000498393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*2357G>T",
"hgvs_p": null,
"transcript": "ENST00000651455.1",
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},
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{
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},
{
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}
],
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"dbsnp": "rs121913581",
"frequency_reference_population": 6.842004e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.842e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.49000000953674316,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.551,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.49,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000366577.10",
"gene_symbol": "MTR",
"hgnc_id": 7468,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3613G>T",
"hgvs_p": "p.Glu1205*"
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],
"clinvar_disease": "Methylcobalamin deficiency type cblG",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Methylcobalamin deficiency type cblG",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}