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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: 12-70296305-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=70296305&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 70296305,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000229195.8",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.49-14590G>A",
"hgvs_p": null,
"transcript": "NM_014515.7",
"protein_id": "NP_055330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": "ENST00000229195.8",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.49-14590G>A",
"hgvs_p": null,
"transcript": "ENST00000229195.8",
"protein_id": "ENSP00000229195.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": "NM_014515.7",
"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": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.49-14590G>A",
"hgvs_p": null,
"transcript": "ENST00000418359.7",
"protein_id": "ENSP00000412091.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3152,
"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": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.21+2011G>A",
"hgvs_p": null,
"transcript": "ENST00000548159.5",
"protein_id": "ENSP00000449659.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2549,
"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": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.49-14590G>A",
"hgvs_p": null,
"transcript": "NM_001199302.2",
"protein_id": "NP_001186231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3164,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.49-14590G>A",
"hgvs_p": null,
"transcript": "NM_001199303.2",
"protein_id": "NP_001186232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3378,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.49-14590G>A",
"hgvs_p": null,
"transcript": "NM_001414651.1",
"protein_id": "NP_001401580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3245,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.49-14590G>A",
"hgvs_p": null,
"transcript": "ENST00000551043.5",
"protein_id": "ENSP00000449260.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": -4,
"cds_end": null,
"cds_length": 1621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2288,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.49-14590G>A",
"hgvs_p": null,
"transcript": "NM_001414652.1",
"protein_id": "NP_001401581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
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"cdna_length": 2835,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CNOT2",
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"hgvs_c": "c.21+2011G>A",
"hgvs_p": null,
"transcript": "NM_001414653.1",
"protein_id": "NP_001401582.1",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "CNOT2",
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"hgvs_c": "c.21+2011G>A",
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"transcript": "NM_001414654.1",
"protein_id": "NP_001401583.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "CNOT2",
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},
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],
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],
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},
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],
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},
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},
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],
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"transcript": "ENST00000550641.6",
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],
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"hgvs_c": "c.49-14590G>A",
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"transcript": "ENST00000550160.5",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "CNOT2",
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},
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.157659,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 23979,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2155,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.157,
"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": "ENST00000229195.8",
"gene_symbol": "CNOT2",
"hgnc_id": 7878,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.49-14590G>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
}