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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: 9-498343-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=498343&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 498343,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001256876.3",
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-362+25070G>A",
"hgvs_p": null,
"transcript": "ENST00000382303.5",
"protein_id": "ENSP00000371740.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5581,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-362+25070G>A",
"hgvs_p": null,
"transcript": "NM_001256876.3",
"protein_id": "NP_001243805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5575,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "n.405+25070G>A",
"hgvs_p": null,
"transcript": "ENST00000688973.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1420,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-84+25070G>A",
"hgvs_p": null,
"transcript": "XM_047423040.1",
"protein_id": "XP_047278996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6382,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-566+25070G>A",
"hgvs_p": null,
"transcript": "XM_047423041.1",
"protein_id": "XP_047278997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6864,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-84+25070G>A",
"hgvs_p": null,
"transcript": "XM_047423042.1",
"protein_id": "XP_047278998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5438,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-84+25070G>A",
"hgvs_p": null,
"transcript": "XM_047423043.1",
"protein_id": "XP_047278999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
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"cdna_length": 5478,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-84+25070G>A",
"hgvs_p": null,
"transcript": "XM_047423044.1",
"protein_id": "XP_047279000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5297,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-84+25070G>A",
"hgvs_p": null,
"transcript": "XM_047423047.1",
"protein_id": "XP_047279003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5473,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-476+25070G>A",
"hgvs_p": null,
"transcript": "XM_047423048.1",
"protein_id": "XP_047279004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": -4,
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"cds_length": 4059,
"cdna_start": null,
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"cdna_length": 6593,
"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": 17,
"intron_rank": 3,
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"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-476+25070G>A",
"hgvs_p": null,
"transcript": "XM_047423049.1",
"protein_id": "XP_047279005.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "KANK1",
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"transcript": "XM_047423050.1",
"protein_id": "XP_047279006.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-476+25070G>A",
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"transcript": "XM_047423051.1",
"protein_id": "XP_047279007.1",
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},
{
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],
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"gene_symbol": "KANK1",
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"transcript": "XM_047423052.1",
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],
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},
{
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],
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],
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"gene_symbol": "KANK1",
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},
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"intron_variant"
],
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"gene_symbol": "KANK1",
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"hgvs_c": "c.-566+25070G>A",
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"transcript": "XM_047423060.1",
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],
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],
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},
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],
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"intron_rank": 2,
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"gene_symbol": "KANK1",
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}
],
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"dbsnp": "rs7019412",
"frequency_reference_population": 0.007626317,
"hom_count_reference_population": 17,
"allele_count_reference_population": 1161,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00762632,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1161,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 17,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"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": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.817,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001256876.3",
"gene_symbol": "KANK1",
"hgnc_id": 19309,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.-362+25070G>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
}