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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: 16-50710939-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50710939&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 50710939,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000647318.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "NM_001370466.1",
"protein_id": "NP_001357395.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1013,
"cds_start": 947,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": "ENST00000647318.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "ENST00000647318.2",
"protein_id": "ENSP00000495993.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1013,
"cds_start": 947,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": "NM_001370466.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.1028T>G",
"hgvs_p": "p.Leu343Arg",
"transcript": "ENST00000300589.6",
"protein_id": "ENSP00000300589.2",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1028,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 4486,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.1088T>G",
"hgvs_p": null,
"transcript": "ENST00000526417.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.1028T>G",
"hgvs_p": "p.Leu343Arg",
"transcript": "NM_022162.3",
"protein_id": "NP_071445.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1040,
"cds_start": 1028,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "NM_001293557.2",
"protein_id": "NP_001280486.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 1013,
"cds_start": 947,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "XM_006721242.5",
"protein_id": "XP_006721305.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 985,
"cds_start": 947,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.524T>G",
"hgvs_p": "p.Leu175Arg",
"transcript": "XM_047434452.1",
"protein_id": "XP_047290408.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 872,
"cds_start": 524,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.524T>G",
"hgvs_p": "p.Leu175Arg",
"transcript": "XM_047434453.1",
"protein_id": "XP_047290409.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 872,
"cds_start": 524,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.524T>G",
"hgvs_p": "p.Leu175Arg",
"transcript": "XM_047434454.1",
"protein_id": "XP_047290410.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 872,
"cds_start": 524,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.362T>G",
"hgvs_p": "p.Leu121Arg",
"transcript": "XM_017023536.2",
"protein_id": "XP_016879025.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 818,
"cds_start": 362,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.362T>G",
"hgvs_p": "p.Leu121Arg",
"transcript": "XM_017023537.2",
"protein_id": "XP_016879026.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 818,
"cds_start": 362,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "XM_006721243.5",
"protein_id": "XP_006721306.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 793,
"cds_start": 947,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "XM_011523260.4",
"protein_id": "XP_011521562.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 793,
"cds_start": 947,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "XM_011523261.3",
"protein_id": "XP_011521563.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 793,
"cds_start": 947,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "XM_047434455.1",
"protein_id": "XP_047290411.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 793,
"cds_start": 947,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "XM_047434456.1",
"protein_id": "XP_047290412.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 793,
"cds_start": 947,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg",
"transcript": "XM_047434457.1",
"protein_id": "XP_047290413.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 793,
"cds_start": 947,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2530,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.947T>G",
"hgvs_p": null,
"transcript": "ENST00000641284.2",
"protein_id": "ENSP00000493088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3830,
"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": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.947T>G",
"hgvs_p": null,
"transcript": "ENST00000646677.2",
"protein_id": "ENSP00000496533.1",
"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": 4512,
"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": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.1012T>G",
"hgvs_p": null,
"transcript": "NR_163434.1",
"protein_id": null,
"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": 4510,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.1012T>G",
"hgvs_p": null,
"transcript": "XR_007064894.1",
"protein_id": null,
"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": 3184,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.1012T>G",
"hgvs_p": null,
"transcript": "XR_007064895.1",
"protein_id": null,
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{
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},
{
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}
],
"gene_symbol": "NOD2",
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"dbsnp": "rs369732140",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7588725090026855,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2429,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.816,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647318.2",
"gene_symbol": "NOD2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.947T>G",
"hgvs_p": "p.Leu316Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}