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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: 9-105512650-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=105512650&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 105512650,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000481272.6",
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.896-157A>G",
"hgvs_p": null,
"transcript": "NM_001145313.3",
"protein_id": "NP_001138785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": "ENST00000481272.6",
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.896-157A>G",
"hgvs_p": null,
"transcript": "ENST00000481272.6",
"protein_id": "ENSP00000417492.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": "NM_001145313.3",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.896-157A>G",
"hgvs_p": null,
"transcript": "ENST00000495708.5",
"protein_id": "ENSP00000420624.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.239-157A>G",
"hgvs_p": null,
"transcript": "ENST00000374707.1",
"protein_id": "ENSP00000363839.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7062,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.800-157A>G",
"hgvs_p": null,
"transcript": "NM_001330739.2",
"protein_id": "NP_001317668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7667,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.800-157A>G",
"hgvs_p": null,
"transcript": "ENST00000394926.7",
"protein_id": "ENSP00000378384.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1947,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.800-157A>G",
"hgvs_p": null,
"transcript": "NM_001287191.2",
"protein_id": "NP_001274120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7664,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.800-157A>G",
"hgvs_p": null,
"transcript": "NM_001287192.2",
"protein_id": "NP_001274121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7631,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.800-157A>G",
"hgvs_p": null,
"transcript": "ENST00000484973.5",
"protein_id": "ENSP00000419691.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1711,
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.914-157A>G",
"hgvs_p": null,
"transcript": "XM_011519077.3",
"protein_id": "XP_011517379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
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"cdna_length": 7664,
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.935-157A>G",
"hgvs_p": null,
"transcript": "XM_011519078.3",
"protein_id": "XP_011517380.2",
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"aa_start": null,
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"cds_start": -4,
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"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": 14,
"intron_rank": 9,
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"gene_symbol": "FSD1L",
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"transcript": "XM_011519079.3",
"protein_id": "XP_011517381.2",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
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"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.896-157A>G",
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"transcript": "XM_005252254.3",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"intron_rank": 9,
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"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.896-157A>G",
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"transcript": "XM_017015182.2",
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},
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],
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"gene_symbol": "FSD1L",
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"transcript": "XM_017015183.2",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 10,
"intron_rank": 4,
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"gene_symbol": "FSD1L",
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},
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],
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"gene_symbol": "FSD1L",
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"hgvs_c": "c.425-157A>G",
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"transcript": "XM_047423948.1",
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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": 11,
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"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.935-157A>G",
"hgvs_p": null,
"transcript": "XM_017015185.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "FSD1L",
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"transcript": "XM_047423949.1",
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},
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],
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"gene_symbol": "FSD1L",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"hgvs_c": "c.800-157A>G",
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"transcript": "XM_017015187.2",
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"feature": null
}
],
"gene_symbol": "FSD1L",
"gene_hgnc_id": 13753,
"dbsnp": "rs10820812",
"frequency_reference_population": 0.5600716,
"hom_count_reference_population": 24146,
"allele_count_reference_population": 85104,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.560072,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 85104,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 24146,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.887,
"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": "ENST00000481272.6",
"gene_symbol": "FSD1L",
"hgnc_id": 13753,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.896-157A>G",
"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
}