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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: 13-36304529-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36304529&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36304529,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000438666.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "NM_015087.5",
"protein_id": "NP_055902.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "ENST00000438666.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000438666.7",
"protein_id": "ENSP00000406061.2",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "NM_015087.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000451493.5",
"protein_id": "ENSP00000414147.1",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000494062.2",
"protein_id": "ENSP00000473599.1",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "NM_001142294.2",
"protein_id": "NP_001135766.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "NM_001142295.2",
"protein_id": "NP_001135767.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "NM_001142296.2",
"protein_id": "NP_001135768.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000355182.8",
"protein_id": "ENSP00000347314.4",
"transcript_support_level": 5,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "ENST00000650221.1",
"protein_id": "ENSP00000497209.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2004,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "XM_005266313.6",
"protein_id": "XP_005266370.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 666,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "XM_005266314.4",
"protein_id": "XP_005266371.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
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"cds_start": 1837,
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"cdna_start": 2074,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "XM_005266315.4",
"protein_id": "XP_005266372.1",
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"aa_start": 613,
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"cdna_start": 1961,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "XM_005266317.4",
"protein_id": "XP_005266374.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SPART",
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},
{
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],
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"gene_symbol": "SPART",
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"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "XM_024449334.2",
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},
{
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"protein_coding": true,
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],
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"hgvs_c": "c.1837G>T",
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},
{
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],
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"gene_symbol": "SPART",
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"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "XM_047430210.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "SPART",
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"hgvs_c": "c.1837G>T",
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"transcript": "XM_047430211.1",
"protein_id": "XP_047286167.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1837,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPART",
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"hgvs_c": "c.1837G>T",
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"transcript": "XM_047430212.1",
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},
{
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"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu",
"transcript": "XM_047430213.1",
"protein_id": "XP_047286169.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "SPART",
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.603G>T",
"hgvs_p": null,
"transcript": "ENST00000475603.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.461G>T",
"hgvs_p": null,
"transcript": "ENST00000491805.5",
"protein_id": null,
"transcript_support_level": 2,
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"cds_start": -4,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPART",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_genomes_af": 0.00000657186,
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"gnomad_genomes_ac": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6253780722618103,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.446,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.769,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000438666.7",
"gene_symbol": "SPART",
"hgnc_id": 18514,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Val613Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}