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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: 5-83249721-T-TAATC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=83249721&ref=T&alt=TAATC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 83249721,
"ref": "T",
"alt": "TAATC",
"effect": "intron_variant",
"transcript": "ENST00000396027.9",
"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": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8807_746-8804dupATCA",
"hgvs_p": null,
"transcript": "NM_003401.5",
"protein_id": "NP_003392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": "ENST00000396027.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8809_746-8808insAATC",
"hgvs_p": null,
"transcript": "ENST00000396027.9",
"protein_id": "ENSP00000379344.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": "NM_003401.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8809_746-8808insAATC",
"hgvs_p": null,
"transcript": "ENST00000511817.1",
"protein_id": "ENSP00000421491.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8809_746-8808insAATC",
"hgvs_p": null,
"transcript": "ENST00000282268.7",
"protein_id": "ENSP00000282268.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "n.815-8809_815-8808insAATC",
"hgvs_p": null,
"transcript": "ENST00000542685.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8807_746-8804dupATCA",
"hgvs_p": null,
"transcript": "NM_001318012.3",
"protein_id": "NP_001304941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8807_746-8804dupATCA",
"hgvs_p": null,
"transcript": "NM_022406.5",
"protein_id": "NP_071801.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 336,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8809_746-8808insAATC",
"hgvs_p": null,
"transcript": "ENST00000338635.10",
"protein_id": "ENSP00000342011.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8807_746-8804dupATCA",
"hgvs_p": null,
"transcript": "NM_022550.4",
"protein_id": "NP_072044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8807_746-8804dupATCA",
"hgvs_p": null,
"transcript": "NM_001318013.2",
"protein_id": "NP_001304942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": -4,
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"cds_length": 933,
"cdna_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "XRCC4",
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"hgvs_c": "n.758-8809_758-8808insAATC",
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"transcript": "ENST00000509268.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "XRCC4",
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"hgvs_c": "c.746-8807_746-8804dupATCA",
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},
{
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"intron_rank": 6,
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"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.746-8807_746-8804dupATCA",
"hgvs_p": null,
"transcript": "XM_047417695.1",
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},
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},
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"gene_symbol": "XRCC4",
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"hgvs_c": "c.746-8807_746-8804dupATCA",
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"transcript": "XM_017009828.3",
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},
{
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],
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"gene_symbol": "XRCC4",
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"hgvs_c": "c.*36-8807_*36-8804dupATCA",
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}
],
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"dbsnp": "rs1611026",
"frequency_reference_population": 0.38221976,
"hom_count_reference_population": 14116,
"allele_count_reference_population": 57904,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.38222,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 57904,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 14116,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.695,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000396027.9",
"gene_symbol": "XRCC4",
"hgnc_id": 12831,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.746-8809_746-8808insAATC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}