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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: 17-35183460-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35183460&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35183460,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_173167.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>G",
"hgvs_p": "p.Arg803Gly",
"transcript": "NM_001267052.2",
"protein_id": "NP_001253981.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394570.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267052.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>G",
"hgvs_p": "p.Arg803Gly",
"transcript": "ENST00000394570.7",
"protein_id": "ENSP00000378071.2",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001267052.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394570.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Arg724Gly",
"transcript": "ENST00000591048.2",
"protein_id": "ENSP00000468335.1",
"transcript_support_level": 1,
"aa_start": 724,
"aa_end": null,
"aa_length": 850,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591048.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2524C>G",
"hgvs_p": "p.Arg842Gly",
"transcript": "ENST00000870786.1",
"protein_id": "ENSP00000540845.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 968,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870786.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2413C>G",
"hgvs_p": "p.Arg805Gly",
"transcript": "NM_173167.3",
"protein_id": "NP_775259.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 931,
"cds_start": 2413,
"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": "NM_173167.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2413C>G",
"hgvs_p": "p.Arg805Gly",
"transcript": "ENST00000268876.9",
"protein_id": "ENSP00000268876.4",
"transcript_support_level": 5,
"aa_start": 805,
"aa_end": null,
"aa_length": 931,
"cds_start": 2413,
"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": "ENST00000268876.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>G",
"hgvs_p": "p.Arg803Gly",
"transcript": "NM_001033576.2",
"protein_id": "NP_001028748.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"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_001033576.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>G",
"hgvs_p": "p.Arg803Gly",
"transcript": "ENST00000870785.1",
"protein_id": "ENSP00000540844.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"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": "ENST00000870785.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>G",
"hgvs_p": "p.Arg803Gly",
"transcript": "ENST00000958206.1",
"protein_id": "ENSP00000628265.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"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": "ENST00000958206.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>G",
"hgvs_p": "p.Arg803Gly",
"transcript": "ENST00000958208.1",
"protein_id": "ENSP00000628267.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"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": "ENST00000958208.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>G",
"hgvs_p": "p.Arg803Gly",
"transcript": "ENST00000958219.1",
"protein_id": "ENSP00000628278.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"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": "ENST00000958219.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2407C>G",
"hgvs_p": "p.Arg803Gly",
"transcript": "ENST00000958221.1",
"protein_id": "ENSP00000628280.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 929,
"cds_start": 2407,
"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": "ENST00000958221.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Arg802Gly",
"transcript": "ENST00000958209.1",
"protein_id": "ENSP00000628268.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 928,
"cds_start": 2404,
"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": "ENST00000958209.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Arg802Gly",
"transcript": "ENST00000958212.1",
"protein_id": "ENSP00000628271.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 928,
"cds_start": 2404,
"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": "ENST00000958212.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Arg802Gly",
"transcript": "ENST00000958214.1",
"protein_id": "ENSP00000628273.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 928,
"cds_start": 2404,
"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": "ENST00000958214.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Arg802Gly",
"transcript": "ENST00000958218.1",
"protein_id": "ENSP00000628277.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 928,
"cds_start": 2404,
"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": "ENST00000958218.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2392C>G",
"hgvs_p": "p.Arg798Gly",
"transcript": "ENST00000958216.1",
"protein_id": "ENSP00000628275.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 924,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958216.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2236C>G",
"hgvs_p": "p.Arg746Gly",
"transcript": "ENST00000870787.1",
"protein_id": "ENSP00000540846.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 872,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870787.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2236C>G",
"hgvs_p": "p.Arg746Gly",
"transcript": "ENST00000958207.1",
"protein_id": "ENSP00000628266.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 872,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958207.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2212C>G",
"hgvs_p": "p.Arg738Gly",
"transcript": "ENST00000958213.1",
"protein_id": "ENSP00000628272.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 864,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958213.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2173C>G",
"hgvs_p": "p.Arg725Gly",
"transcript": "ENST00000958210.1",
"protein_id": "ENSP00000628269.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 851,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958210.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC45B",
"gene_hgnc_id": 14304,
"hgvs_c": "c.2170C>G",
"hgvs_p": "p.Arg724Gly",
"transcript": "NM_001308281.1",
"protein_id": "NP_001295210.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 850,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM5",
"PP3"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD,AR,Unknown",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}