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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: 8-143950698-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143950698&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143950698,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_201380.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Ala3Ala",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 4684,
"cds_start": 9,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 15249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.71-12006C>T",
"hgvs_p": null,
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4533,
"cds_start": -4,
"cds_end": null,
"cds_length": 13602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.71-12006C>T",
"hgvs_p": null,
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4533,
"cds_start": -4,
"cds_end": null,
"cds_length": 13602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.194-12006C>T",
"hgvs_p": null,
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4574,
"cds_start": -4,
"cds_end": null,
"cds_length": 13725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.46+3028C>T",
"hgvs_p": null,
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4525,
"cds_start": -4,
"cds_end": null,
"cds_length": 13578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Ala3Ala",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 4684,
"cds_start": 9,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 15299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Ala3Ala",
"transcript": "XM_005250976.5",
"protein_id": "XP_005251033.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 4689,
"cds_start": 9,
"cds_end": null,
"cds_length": 14070,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 15314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Ala3Ala",
"transcript": "XM_047421870.1",
"protein_id": "XP_047277826.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 4680,
"cds_start": 9,
"cds_end": null,
"cds_length": 14043,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 15287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Ala3Ala",
"transcript": "XM_047421882.1",
"protein_id": "XP_047277838.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 3557,
"cds_start": 9,
"cds_end": null,
"cds_length": 10674,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 11918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Ala3Ala",
"transcript": "XM_047421884.1",
"protein_id": "XP_047277840.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 3553,
"cds_start": 9,
"cds_end": null,
"cds_length": 10662,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 11906,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.194-12006C>T",
"hgvs_p": null,
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4591,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 33,
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"gene_symbol": "PLEC",
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"hgvs_c": "c.194-12006C>T",
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"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
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},
{
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],
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"exon_count": 32,
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"gene_symbol": "PLEC",
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"hgvs_c": "c.194-12006C>T",
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"transcript": "ENST00000527096.5",
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},
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],
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"gene_symbol": "PLEC",
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],
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"transcript": "NM_201379.3",
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},
{
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],
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"gene_symbol": "PLEC",
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],
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"gene_symbol": "PLEC",
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"hgvs_c": "c.194-12006C>T",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "PLEC",
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"hgvs_c": "n.44-12006C>T",
"hgvs_p": null,
"transcript": "ENST00000532346.1",
"protein_id": null,
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},
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],
"exon_rank": null,
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"intron_rank": 2,
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"transcript": "XM_006716588.4",
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],
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.46+3028C>T",
"hgvs_p": null,
"transcript": "XM_005250982.5",
"protein_id": "XP_005251039.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.71-12006C>T",
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"transcript": "XM_047421875.1",
"protein_id": "XP_047277831.1",
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{
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}
],
"gene_symbol": "PLEC",
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"dbsnp": "rs782759589",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.0000590823,
"gnomad_exomes_ac": 53,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"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": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.441,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_201380.4",
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"hgnc_id": 9069,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Ala3Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}