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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: 15-90953001-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90953001&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90953001,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_018671.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2376C>T",
"hgvs_p": "p.Arg792Arg",
"transcript": "NM_018671.5",
"protein_id": "NP_061141.2",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 944,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000418476.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018671.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2376C>T",
"hgvs_p": "p.Arg792Arg",
"transcript": "ENST00000418476.2",
"protein_id": "ENSP00000407487.2",
"transcript_support_level": 1,
"aa_start": 792,
"aa_end": null,
"aa_length": 944,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018671.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418476.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2796C>T",
"hgvs_p": "p.Arg932Arg",
"transcript": "ENST00000639885.1",
"protein_id": "ENSP00000491150.1",
"transcript_support_level": 5,
"aa_start": 932,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2796,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639885.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2463C>T",
"hgvs_p": "p.Arg821Arg",
"transcript": "ENST00000936141.1",
"protein_id": "ENSP00000606200.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 973,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936141.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2400C>T",
"hgvs_p": "p.Arg800Arg",
"transcript": "ENST00000971439.1",
"protein_id": "ENSP00000641498.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 952,
"cds_start": 2400,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971439.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2397C>T",
"hgvs_p": "p.Arg799Arg",
"transcript": "ENST00000895398.1",
"protein_id": "ENSP00000565457.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 951,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895398.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2397C>T",
"hgvs_p": "p.Arg799Arg",
"transcript": "ENST00000971437.1",
"protein_id": "ENSP00000641496.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 951,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971437.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2394C>T",
"hgvs_p": "p.Arg798Arg",
"transcript": "ENST00000971442.1",
"protein_id": "ENSP00000641501.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 950,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971442.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2376C>T",
"hgvs_p": "p.Arg792Arg",
"transcript": "ENST00000895394.1",
"protein_id": "ENSP00000565453.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 946,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895394.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2376C>T",
"hgvs_p": "p.Arg792Arg",
"transcript": "NM_001323619.1",
"protein_id": "NP_001310548.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 944,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323619.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2376C>T",
"hgvs_p": "p.Arg792Arg",
"transcript": "ENST00000895397.1",
"protein_id": "ENSP00000565456.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 944,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895397.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2373C>T",
"hgvs_p": "p.Arg791Arg",
"transcript": "ENST00000895391.1",
"protein_id": "ENSP00000565450.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 943,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895391.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Arg788Arg",
"transcript": "ENST00000971440.1",
"protein_id": "ENSP00000641499.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 940,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971440.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Arg787Arg",
"transcript": "ENST00000895388.1",
"protein_id": "ENSP00000565447.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 939,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895388.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2352C>T",
"hgvs_p": "p.Arg784Arg",
"transcript": "ENST00000895393.1",
"protein_id": "ENSP00000565452.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 936,
"cds_start": 2352,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895393.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2349C>T",
"hgvs_p": "p.Arg783Arg",
"transcript": "ENST00000895396.1",
"protein_id": "ENSP00000565455.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 935,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895396.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2331C>T",
"hgvs_p": "p.Arg777Arg",
"transcript": "ENST00000895389.1",
"protein_id": "ENSP00000565448.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 931,
"cds_start": 2331,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895389.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2331C>T",
"hgvs_p": "p.Arg777Arg",
"transcript": "NM_001039675.2",
"protein_id": "NP_001034764.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 929,
"cds_start": 2331,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039675.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2331C>T",
"hgvs_p": "p.Arg777Arg",
"transcript": "NM_001323621.2",
"protein_id": "NP_001310550.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 929,
"cds_start": 2331,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323621.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2328C>T",
"hgvs_p": "p.Arg776Arg",
"transcript": "ENST00000895392.1",
"protein_id": "ENSP00000565451.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 928,
"cds_start": 2328,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895392.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2289C>T",
"hgvs_p": "p.Arg763Arg",
"transcript": "ENST00000895395.1",
"protein_id": "ENSP00000565454.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 915,
"cds_start": 2289,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895395.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45A",
"gene_hgnc_id": 30594,
"hgvs_c": "c.2283C>T",
"hgvs_p": "p.Arg761Arg",
"transcript": "ENST00000971438.1",
"protein_id": "ENSP00000641497.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 913,
"cds_start": 2283,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.33,
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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],
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{
"score": -2,
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"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}