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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: 1-223112491-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223112491&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TLR5",
"hgnc_id": 11851,
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Gln181Lys",
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003268.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000299361",
"hgnc_id": null,
"hgvs_c": "n.*140G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000762835.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 95396,
"alphamissense_prediction": null,
"alphamissense_score": 0.0741,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005174398422241211,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4213,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 946,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4329,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": 936,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
"aa_end": null,
"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3424,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
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"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
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"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
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"aa_length": 858,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 827,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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
},
{
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"aa_length": 858,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000860818.1",
"gene_hgnc_id": 11851,
"gene_symbol": "TLR5",
"hgvs_c": "c.541C>A",
"hgvs_p": "p.Gln181Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530877.1",
"strand": false,
"transcript": "ENST00000860818.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 969,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 906,
"cds_end": null,
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"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530879.1",
"strand": false,
"transcript": "ENST00000860820.1",
"transcript_support_level": null
},
{
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"aa_length": 858,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 784,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
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"aa_length": 858,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530881.1",
"strand": false,
"transcript": "ENST00000860822.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1200,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
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"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": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 986,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581325.1",
"strand": false,
"transcript": "ENST00000911266.1",
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},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1260,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
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"aa_length": 858,
"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5326,
"cdna_start": 3074,
"cds_end": null,
"cds_length": 2577,
"cds_start": 541,
"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.541C>A",
"hgvs_p": "p.Gln181Lys",
"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": "K",
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"aa_ref": "Q",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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