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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: 6-157866023-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157866023&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157866023,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000392185.8",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-1524G>A",
"hgvs_p": null,
"transcript": "NM_016224.5",
"protein_id": "NP_057308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": "ENST00000392185.8",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000392185.8",
"protein_id": "ENSP00000376024.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": "NM_016224.5",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000681534.1",
"protein_id": "ENSP00000505127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3448,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000679732.1",
"protein_id": "ENSP00000505311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"cds_start": -4,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4231,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000680863.1",
"protein_id": "ENSP00000505291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3828,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000681183.1",
"protein_id": "ENSP00000505072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3434,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.-9-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000679691.1",
"protein_id": "ENSP00000505486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": -4,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3548,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000680078.1",
"protein_id": "ENSP00000505598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3634,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000681186.1",
"protein_id": "ENSP00000506632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3196,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.13-30804G>A",
"hgvs_p": null,
"transcript": "ENST00000681138.1",
"protein_id": "ENSP00000505392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"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,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "c.-27+42577G>A",
"hgvs_p": null,
"transcript": "ENST00000680495.1",
"protein_id": "ENSP00000505186.1",
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"aa_start": null,
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"aa_length": 270,
"cds_start": -4,
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},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "SNX9",
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"hgvs_c": "c.-9-1524G>A",
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"transcript": "ENST00000614703.4",
"protein_id": "ENSP00000482920.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "SNX9",
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"hgvs_c": "c.-9-1524G>A",
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"transcript": "ENST00000614800.4",
"protein_id": "ENSP00000479382.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "n.13-35875G>A",
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"transcript": "ENST00000679790.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "SNX9",
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"hgvs_c": "n.13-1524G>A",
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"transcript": "ENST00000679814.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SNX9",
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"transcript": "ENST00000680015.1",
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},
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],
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},
{
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"protein_coding": false,
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"consequences": [
"intron_variant"
],
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "SNX9",
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"hgvs_c": "n.226-1524G>A",
"hgvs_p": null,
"transcript": "ENST00000680095.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "SNX9",
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},
{
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],
"exon_rank": null,
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},
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"hgvs_c": "n.13-1524G>A",
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"transcript": "ENST00000681651.1",
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}
],
"gene_symbol": "SNX9",
"gene_hgnc_id": 14973,
"dbsnp": "rs7760230",
"frequency_reference_population": 0.04323699,
"hom_count_reference_population": 463,
"allele_count_reference_population": 6576,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.043237,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 6576,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 463,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.137,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"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": "ENST00000392185.8",
"gene_symbol": "SNX9",
"hgnc_id": 14973,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.13-1524G>A",
"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
}