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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: 11-67497208-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67497208&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67497208,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000356404.8",
"consequences": [
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "NM_004910.3",
"protein_id": "NP_004901.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": -4,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": "ENST00000356404.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "ENST00000356404.8",
"protein_id": "ENSP00000348772.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": -4,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": "NM_004910.3",
"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": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "ENST00000534749.5",
"protein_id": "ENSP00000437286.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": -4,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4189,
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "ENST00000436757.7",
"protein_id": "ENSP00000398787.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": -4,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "n.1000G>A",
"hgvs_p": null,
"transcript": "ENST00000527370.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3712,
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "NM_001130848.2",
"protein_id": "NP_001124320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": -4,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4214,
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "XM_017018586.2",
"protein_id": "XP_016874075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": -4,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4325,
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "XM_047427905.1",
"protein_id": "XP_047283861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": -4,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4282,
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "XM_047427906.1",
"protein_id": "XP_047283862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": -4,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4103,
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "XM_047427907.1",
"protein_id": "XP_047283863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": -4,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4132,
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2143+23G>A",
"hgvs_p": null,
"transcript": "XM_011545396.4",
"protein_id": "XP_011543698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
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"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "XM_047427908.1",
"protein_id": "XP_047283864.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
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"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "XM_047427909.1",
"protein_id": "XP_047283865.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
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"gene_symbol": "PITPNM1",
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"hgvs_c": "c.2146+23G>A",
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"transcript": "XM_047427910.1",
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},
{
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],
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"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2143+23G>A",
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"transcript": "XM_047427911.1",
"protein_id": "XP_047283867.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "PITPNM1",
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"hgvs_c": "c.1588+23G>A",
"hgvs_p": null,
"transcript": "XM_047427912.1",
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},
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],
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"intron_rank": 14,
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"gene_symbol": "PITPNM1",
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"hgvs_c": "c.1585+23G>A",
"hgvs_p": null,
"transcript": "XM_047427913.1",
"protein_id": "XP_047283869.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.1561+23G>A",
"hgvs_p": null,
"transcript": "XM_047427914.1",
"protein_id": "XP_047283870.1",
"transcript_support_level": null,
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},
{
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],
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"gene_symbol": "PITPNM1",
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 14,
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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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>A",
"hgvs_p": null,
"transcript": "XM_047427918.1",
"protein_id": "XP_047283874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"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
}
],
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"dbsnp": "rs2276120",
"frequency_reference_population": 0.3882518,
"hom_count_reference_population": 121786,
"allele_count_reference_population": 604067,
"gnomad_exomes_af": 0.393727,
"gnomad_genomes_af": 0.337717,
"gnomad_exomes_ac": 552703,
"gnomad_genomes_ac": 51364,
"gnomad_exomes_homalt": 112452,
"gnomad_genomes_homalt": 9334,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.141,
"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": "ENST00000356404.8",
"gene_symbol": "PITPNM1",
"hgnc_id": 9003,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2146+23G>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
}