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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: 2-47809222-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47809222&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47809222,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001190274.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2491A>G",
"hgvs_p": "p.Ser831Gly",
"transcript": "NM_001190274.2",
"protein_id": "NP_001177203.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 927,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "ENST00000403359.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190274.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2491A>G",
"hgvs_p": "p.Ser831Gly",
"transcript": "ENST00000403359.8",
"protein_id": "ENSP00000384823.4",
"transcript_support_level": 1,
"aa_start": 831,
"aa_end": null,
"aa_length": 927,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "NM_001190274.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403359.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2239A>G",
"hgvs_p": "p.Ser747Gly",
"transcript": "ENST00000402508.5",
"protein_id": "ENSP00000385398.1",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 843,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402508.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2488A>G",
"hgvs_p": "p.Ser830Gly",
"transcript": "ENST00000895446.1",
"protein_id": "ENSP00000565505.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 926,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895446.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2470A>G",
"hgvs_p": "p.Ser824Gly",
"transcript": "ENST00000945015.1",
"protein_id": "ENSP00000615074.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 920,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 3257,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945015.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2380A>G",
"hgvs_p": "p.Ser794Gly",
"transcript": "ENST00000945016.1",
"protein_id": "ENSP00000615075.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 890,
"cds_start": 2380,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2692,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945016.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2239A>G",
"hgvs_p": "p.Ser747Gly",
"transcript": "ENST00000683894.1",
"protein_id": "ENSP00000507789.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 870,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683894.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2239A>G",
"hgvs_p": "p.Ser747Gly",
"transcript": "NM_001374325.1",
"protein_id": "NP_001361254.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 843,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374325.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2239A>G",
"hgvs_p": "p.Ser747Gly",
"transcript": "NM_025133.4",
"protein_id": "NP_079409.3",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 843,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025133.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2491A>G",
"hgvs_p": "p.Ser831Gly",
"transcript": "XM_005264572.6",
"protein_id": "XP_005264629.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 954,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264572.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2488A>G",
"hgvs_p": "p.Ser830Gly",
"transcript": "XM_005264573.6",
"protein_id": "XP_005264630.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 953,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264573.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2488A>G",
"hgvs_p": "p.Ser830Gly",
"transcript": "XM_017005015.2",
"protein_id": "XP_016860504.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 926,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005015.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2239A>G",
"hgvs_p": "p.Ser747Gly",
"transcript": "XM_017005016.3",
"protein_id": "XP_016860505.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 870,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005016.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2239A>G",
"hgvs_p": "p.Ser747Gly",
"transcript": "XM_047445919.1",
"protein_id": "XP_047301875.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 870,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445919.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2236A>G",
"hgvs_p": "p.Ser746Gly",
"transcript": "XM_047445920.1",
"protein_id": "XP_047301876.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 869,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445920.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2239A>G",
"hgvs_p": "p.Ser747Gly",
"transcript": "XM_047445921.1",
"protein_id": "XP_047301877.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 843,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445921.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2236A>G",
"hgvs_p": "p.Ser746Gly",
"transcript": "XM_047445922.1",
"protein_id": "XP_047301878.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 842,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*2362T>C",
"hgvs_p": null,
"transcript": "ENST00000652107.1",
"protein_id": "ENSP00000498629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1261,
"cds_start": null,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*41-777T>C",
"hgvs_p": null,
"transcript": "NM_001406796.1",
"protein_id": "NP_001393725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*44-777T>C",
"hgvs_p": null,
"transcript": "NM_001406809.1",
"protein_id": "NP_001393738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*41-777T>C",
"hgvs_p": null,
"transcript": "ENST00000895687.1",
"protein_id": "ENSP00000565746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*41-777T>C",
"hgvs_p": null,
"transcript": "NM_001406805.1",
"protein_id": "NP_001393734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 494,
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"gnomad_exomes_ac": 457,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24323764443397522,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.0773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.991,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001190274.2",
"gene_symbol": "FBXO11",
"hgnc_id": 13590,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2491A>G",
"hgvs_p": "p.Ser831Gly"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001406796.1",
"gene_symbol": "MSH6",
"hgnc_id": 7329,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*41-777T>C",
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}
],
"clinvar_disease": "Inborn genetic diseases,Neurodevelopmental disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2 O:1",
"phenotype_combined": "not specified|not provided|Neurodevelopmental disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}