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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: 12-6726885-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6726885&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6726885,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000543155.6",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "NM_001164094.2",
"protein_id": "NP_001157566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": "ENST00000543155.6",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "ENST00000543155.6",
"protein_id": "ENSP00000438115.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": "NM_001164094.2",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "ENST00000229251.7",
"protein_id": "ENSP00000229251.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1721,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "ENST00000534947.5",
"protein_id": "ENSP00000446039.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2034,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "NM_001164093.2",
"protein_id": "NP_001157565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2024,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "NM_001164095.3",
"protein_id": "NP_001157567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1902,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "NM_016319.4",
"protein_id": "NP_057403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1804,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "ENST00000534877.5",
"protein_id": "ENSP00000438363.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1707,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "ENST00000539735.5",
"protein_id": "ENSP00000441852.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
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"cdna_length": 1832,
"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,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
"hgvs_p": null,
"transcript": "ENST00000538410.5",
"protein_id": "ENSP00000439547.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 262,
"cds_start": -4,
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"cds_length": 789,
"cdna_start": null,
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"cdna_length": 1610,
"mane_select": null,
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"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": 6,
"intron_rank": 2,
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"gene_symbol": "COPS7A",
"gene_hgnc_id": 16758,
"hgvs_c": "c.163-1041G>T",
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"transcript": "ENST00000538753.5",
"protein_id": "ENSP00000440683.1",
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"cds_start": -4,
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},
{
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],
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"gene_symbol": "COPS7A",
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"transcript": "ENST00000541866.5",
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},
{
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],
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"gene_symbol": "COPS7A",
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"hgvs_c": "c.163-1041G>T",
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},
{
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],
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"gene_symbol": "COPS7A",
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"hgvs_c": "c.163-1338G>T",
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},
{
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],
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},
{
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],
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"gene_symbol": "COPS7A",
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},
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],
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"gene_symbol": "COPS7A",
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"hgvs_c": "n.*86+926G>T",
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},
{
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"strand": true,
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],
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"gene_symbol": "COPS7A",
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"hgvs_c": "n.163-1338G>T",
"hgvs_p": null,
"transcript": "ENST00000538375.5",
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},
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],
"exon_rank": null,
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"hgvs_c": "n.163-1338G>T",
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},
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
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"gene_symbol": "COPS7A",
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"hgvs_c": "n.163-1338G>T",
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"transcript": "ENST00000543537.5",
"protein_id": "ENSP00000439158.2",
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},
{
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"strand": true,
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],
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "COPS7A",
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"hgvs_c": "n.163-1338G>T",
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"transcript": "ENST00000543939.5",
"protein_id": "ENSP00000440020.1",
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},
{
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 8,
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"gene_symbol": "COPS7A",
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"transcript": "XM_005253694.3",
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}
],
"gene_symbol": "COPS7A",
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"dbsnp": "rs2178692",
"frequency_reference_population": 0.7435967,
"hom_count_reference_population": 42238,
"allele_count_reference_population": 113107,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.743597,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 113107,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 42238,
"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": -0.03,
"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": "ENST00000543155.6",
"gene_symbol": "COPS7A",
"hgnc_id": 16758,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.163-1041G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}