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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: 1-223111858-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223111858&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TLR5",
"hgnc_id": 11851,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_003268.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000299361",
"hgnc_id": null,
"hgvs_c": "n.455-215G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000762835.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2428,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3490219712257385,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003268.6",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642603.2",
"protein_coding": true,
"protein_id": "NP_003259.2",
"strand": false,
"transcript": "NM_003268.6",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642603.2",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003268.6",
"protein_coding": true,
"protein_id": "ENSP00000496355.1",
"strand": false,
"transcript": "ENST00000642603.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4213,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001437539.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424468.1",
"strand": false,
"transcript": "NM_001437539.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001437624.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424553.1",
"strand": false,
"transcript": "NM_001437624.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4329,
"cdna_start": 1875,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001437650.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424579.1",
"strand": false,
"transcript": "NM_001437650.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001437651.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424580.1",
"strand": false,
"transcript": "NM_001437651.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000407096.7",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385458.3",
"strand": false,
"transcript": "ENST00000407096.7",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3424,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000484766.2",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519510.1",
"strand": false,
"transcript": "ENST00000484766.2",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000645434.2",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493892.2",
"strand": false,
"transcript": "ENST00000645434.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000714229.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519509.1",
"strand": false,
"transcript": "ENST00000714229.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860817.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530876.1",
"strand": false,
"transcript": "ENST00000860817.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 858,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
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"feature": "ENST00000860818.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530877.1",
"strand": false,
"transcript": "ENST00000860818.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860819.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530878.1",
"strand": false,
"transcript": "ENST00000860819.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860820.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530879.1",
"strand": false,
"transcript": "ENST00000860820.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860821.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530880.1",
"strand": false,
"transcript": "ENST00000860821.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000860822.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530881.1",
"strand": false,
"transcript": "ENST00000860822.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
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],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000860823.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530882.1",
"strand": false,
"transcript": "ENST00000860823.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1619,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911266.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581325.1",
"strand": false,
"transcript": "ENST00000911266.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 1893,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964751.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634810.1",
"strand": false,
"transcript": "ENST00000964751.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 858,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5326,
"cdna_start": 3707,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964752.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634811.1",
"strand": false,
"transcript": "ENST00000964752.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 858,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 1785,
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