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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: 9-127804399-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127804399&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FPGS",
"hgnc_id": 3824,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_004957.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 6037,
"alphamissense_prediction": null,
"alphamissense_score": 0.2361,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01825973391532898,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1764,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004957.6",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373247.7",
"protein_coding": true,
"protein_id": "NP_004948.4",
"strand": true,
"transcript": "NM_004957.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1764,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000373247.7",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004957.6",
"protein_coding": true,
"protein_id": "ENSP00000362344.2",
"strand": true,
"transcript": "ENST00000373247.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000460181.5",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "n.260C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000460181.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1866,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910448.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580507.1",
"strand": true,
"transcript": "ENST00000910448.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1815,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910442.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580501.1",
"strand": true,
"transcript": "ENST00000910442.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 253,
"cds_end": null,
"cds_length": 1797,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931643.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601702.1",
"strand": true,
"transcript": "ENST00000931643.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 289,
"cds_end": null,
"cds_length": 1797,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000943704.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613763.1",
"strand": true,
"transcript": "ENST00000943704.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1785,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931641.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601700.1",
"strand": true,
"transcript": "ENST00000931641.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1776,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910447.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580506.1",
"strand": true,
"transcript": "ENST00000910447.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1770,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910449.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580508.1",
"strand": true,
"transcript": "ENST00000910449.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 577,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1734,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910443.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580502.1",
"strand": true,
"transcript": "ENST00000910443.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 569,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1710,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910444.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580503.1",
"strand": true,
"transcript": "ENST00000910444.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 569,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 246,
"cds_end": null,
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"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910445.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580504.1",
"strand": true,
"transcript": "ENST00000910445.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 561,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 320,
"cds_end": null,
"cds_length": 1686,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001288803.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275732.1",
"strand": true,
"transcript": "NM_001288803.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 320,
"cds_end": null,
"cds_length": 1686,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393706.6",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377309.2",
"strand": true,
"transcript": "ENST00000393706.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
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"aa_length": 561,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1686,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000943706.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613765.1",
"strand": true,
"transcript": "ENST00000943706.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 539,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1620,
"cds_start": 253,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910446.1",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580505.1",
"strand": true,
"transcript": "ENST00000910446.1",
"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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"cds_end": null,
"cds_length": 1614,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001018078.2",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018088.1",
"strand": true,
"transcript": "NM_001018078.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 312,
"cds_end": null,
"cds_length": 1614,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000373225.7",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.103C>T",
"hgvs_p": "p.Arg35Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362322.3",
"strand": true,
"transcript": "ENST00000373225.7",
"transcript_support_level": 2
},
{
"aa_alt": "W",
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"aa_length": 375,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 267,
"cds_end": null,
"cds_length": 1128,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000373228.5",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362325.1",
"strand": true,
"transcript": "ENST00000373228.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 320,
"cds_end": null,
"cds_length": 1128,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000630236.2",
"gene_hgnc_id": 3824,
"gene_symbol": "FPGS",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Arg85Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486766.1",
"strand": true,
"transcript": "ENST00000630236.2",
"transcript_support_level": 5
},
{
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