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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: 1-236835586-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236835586&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236835586,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000254.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "NM_000254.3",
"protein_id": "NP_000245.2",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366577.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000254.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "ENST00000366577.10",
"protein_id": "ENSP00000355536.5",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000254.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366577.10"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "ENST00000535889.6",
"protein_id": "ENSP00000441845.1",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535889.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "NM_001291939.1",
"protein_id": "NP_001278868.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291939.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "ENST00000681102.1",
"protein_id": "ENSP00000505600.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1205,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681102.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "NM_001410942.1",
"protein_id": "NP_001397871.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1202,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410942.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "ENST00000679842.1",
"protein_id": "ENSP00000506109.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1202,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679842.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Ala409Pro",
"transcript": "ENST00000961801.1",
"protein_id": "ENSP00000631860.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1225,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961801.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "ENST00000905140.1",
"protein_id": "ENSP00000575199.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905140.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Ala294Pro",
"transcript": "ENST00000674797.2",
"protein_id": "ENSP00000502299.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1149,
"cds_start": 880,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674797.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "ENST00000681177.1",
"protein_id": "ENSP00000506327.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681177.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Ala3Pro",
"transcript": "NM_001291940.2",
"protein_id": "NP_001278869.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 858,
"cds_start": 7,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291940.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1396G>C",
"hgvs_p": "p.Ala466Pro",
"transcript": "XM_011544194.4",
"protein_id": "XP_011542496.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1321,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544194.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1396G>C",
"hgvs_p": "p.Ala466Pro",
"transcript": "XM_017001329.3",
"protein_id": "XP_016856818.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001329.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Ala409Pro",
"transcript": "XM_005273141.6",
"protein_id": "XP_005273198.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1264,
"cds_start": 1225,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273141.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1396G>C",
"hgvs_p": "p.Ala466Pro",
"transcript": "XM_017001330.3",
"protein_id": "XP_016856819.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001330.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Ala409Pro",
"transcript": "XM_047421182.1",
"protein_id": "XP_047277138.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1213,
"cds_start": 1225,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421182.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1396G>C",
"hgvs_p": "p.Ala466Pro",
"transcript": "XM_047421183.1",
"protein_id": "XP_047277139.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 1207,
"cds_start": 1396,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421183.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Ala409Pro",
"transcript": "XM_047421185.1",
"protein_id": "XP_047277141.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1225,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421185.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro",
"transcript": "XM_047421186.1",
"protein_id": "XP_047277142.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1151,
"cds_start": 1228,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421186.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Ala98Pro",
"transcript": "XM_047421187.1",
"protein_id": "XP_047277143.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 953,
"cds_start": 292,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421187.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*453G>C",
"hgvs_p": null,
"transcript": "ENST00000463959.1",
"protein_id": "ENSP00000505498.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463959.1"
},
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],
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"dbsnp": "rs121913582",
"frequency_reference_population": 0.000003103227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273622,
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"gnomad_exomes_ac": 4,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9929872155189514,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.972,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9868,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.304,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000254.3",
"gene_symbol": "MTR",
"hgnc_id": 7468,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1228G>C",
"hgvs_p": "p.Ala410Pro"
}
],
"clinvar_disease": " folate-sensitive,Methylcobalamin deficiency type cblG,Neural tube defects,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Methylcobalamin deficiency type cblG|not specified|Methylcobalamin deficiency type cblG;Neural tube defects, folate-sensitive",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}