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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: 8-11808709-G-GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11808709&ref=G&alt=GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11808709,
"ref": "G",
"alt": "GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCAC",
"effect": "conservative_inframe_insertion",
"transcript": "NM_001287750.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "NM_004462.5",
"protein_id": "NP_004453.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220584.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004462.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "ENST00000220584.9",
"protein_id": "ENSP00000220584.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004462.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220584.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.100-919_100-918insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "ENST00000529464.5",
"protein_id": "ENSP00000434770.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529464.5"
},
{
"aa_ref": "C",
"aa_alt": "HSHSHSHSHSHSHSHSHSHSC",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.231_232insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": "p.Ser77_Cys78insHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSer",
"transcript": "NM_001287750.2",
"protein_id": "NP_001274679.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 476,
"cds_start": 232,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287750.2"
},
{
"aa_ref": "C",
"aa_alt": "HSHSHSHSHSHSHSHSHSHSC",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.231_232insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": "p.Ser77_Cys78insHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSer",
"transcript": "ENST00000525954.5",
"protein_id": "ENSP00000491537.1",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 476,
"cds_start": 232,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525954.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "ENST00000938356.1",
"protein_id": "ENSP00000608415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "NM_001287742.2",
"protein_id": "NP_001274671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287742.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "NM_001287743.2",
"protein_id": "NP_001274672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287743.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "ENST00000530337.6",
"protein_id": "ENSP00000431852.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000530337.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "ENST00000615631.5",
"protein_id": "ENSP00000481481.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 417,
"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "ENST00000866105.1",
"protein_id": "ENSP00000536164.1",
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"cds_start": null,
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},
{
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],
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
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},
{
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],
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"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
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"cdna_start": null,
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},
{
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],
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.79-46_79-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
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},
{
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],
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"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
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},
{
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],
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"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "ENST00000938361.1",
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},
{
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"consequences": [
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],
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"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
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"protein_id": "ENSP00000390367.2",
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},
{
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],
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.79-46_79-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000866107.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 8,
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.100-46_100-45insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC",
"hgvs_p": null,
"transcript": "ENST00000938346.1",
"protein_id": "ENSP00000608405.1",
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"biotype": "protein_coding",
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},
{
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{
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"verdict": "Likely_benign",
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "FDFT1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}