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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: 4-54716231-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54716231&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 54716231,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000288135.6",
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1231+6692C>T",
"hgvs_p": null,
"transcript": "NM_000222.3",
"protein_id": "NP_000213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 976,
"cds_start": -4,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "ENST00000288135.6",
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1231+6692C>T",
"hgvs_p": null,
"transcript": "ENST00000288135.6",
"protein_id": "ENSP00000288135.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 976,
"cds_start": -4,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "NM_000222.3",
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1234+6692C>T",
"hgvs_p": null,
"transcript": "ENST00000412167.7",
"protein_id": "ENSP00000390987.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": -4,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5126,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1234+6692C>T",
"hgvs_p": null,
"transcript": "NM_001385284.1",
"protein_id": "NP_001372213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5150,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1234+6692C>T",
"hgvs_p": null,
"transcript": "ENST00000687109.1",
"protein_id": "ENSP00000509371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5249,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1234+6692C>T",
"hgvs_p": null,
"transcript": "NM_001385290.1",
"protein_id": "NP_001372219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 976,
"cds_start": -4,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5147,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1234+6692C>T",
"hgvs_p": null,
"transcript": "ENST00000689832.1",
"protein_id": "ENSP00000509084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 976,
"cds_start": -4,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5098,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1231+6692C>T",
"hgvs_p": null,
"transcript": "NM_001385285.1",
"protein_id": "NP_001372214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": -4,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5144,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1231+6692C>T",
"hgvs_p": null,
"transcript": "ENST00000692783.1",
"protein_id": "ENSP00000508733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": -4,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1234+6692C>T",
"hgvs_p": null,
"transcript": "NM_001385288.1",
"protein_id": "NP_001372217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 7,
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"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.1234+6692C>T",
"hgvs_p": null,
"transcript": "ENST00000690543.1",
"protein_id": "ENSP00000508831.1",
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},
{
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"consequences": [
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],
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"transcript": "NM_001093772.2",
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},
{
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],
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"gene_symbol": "KIT",
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"hgvs_c": "c.1234+6692C>T",
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"transcript": "NM_001385292.1",
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},
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],
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"gene_symbol": "KIT",
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"hgvs_c": "c.1231+6692C>T",
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},
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],
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"transcript": "NM_001385286.1",
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},
{
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],
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"gene_symbol": "KIT",
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},
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],
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"gene_symbol": "KIT",
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"hgvs_c": "c.721+6692C>T",
"hgvs_p": null,
"transcript": "ENST00000689994.1",
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},
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],
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],
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],
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"gene_symbol": "KIT",
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"hgvs_c": "n.1401+6692C>T",
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"transcript": "ENST00000687265.1",
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},
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"strand": true,
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],
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"intron_rank": 7,
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"gene_symbol": "KIT",
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"hgvs_c": "n.1231+6692C>T",
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{
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"intron_variant"
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}
],
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.107133,
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"gnomad_genomes_ac": 16283,
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"gnomad_genomes_homalt": 1344,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.143,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000288135.6",
"gene_symbol": "KIT",
"hgnc_id": 6342,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1231+6692C>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}