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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: 10-92273716-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92273716&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 92273716,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000265997.5",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "NM_014912.5",
"protein_id": "NP_055727.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": "ENST00000265997.5",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "ENST00000265997.5",
"protein_id": "ENSP00000265997.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": "NM_014912.5",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_006717715.4",
"protein_id": "XP_006717778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7832,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17453A>G",
"hgvs_p": null,
"transcript": "XM_024447895.2",
"protein_id": "XP_024303663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7744,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-239+17210A>G",
"hgvs_p": null,
"transcript": "XM_047424807.1",
"protein_id": "XP_047280763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8059,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_011539514.3",
"protein_id": "XP_011537816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7808,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-239+17210A>G",
"hgvs_p": null,
"transcript": "XM_047424809.1",
"protein_id": "XP_047280765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8035,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17453A>G",
"hgvs_p": null,
"transcript": "XM_047424810.1",
"protein_id": "XP_047280766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7720,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_011539515.3",
"protein_id": "XP_011537817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
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"cdna_length": 7763,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-239+17210A>G",
"hgvs_p": null,
"transcript": "XM_047424812.1",
"protein_id": "XP_047280768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7990,
"mane_select": null,
"mane_plus": null,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_005269630.5",
"protein_id": "XP_005269687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
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"cdna_length": 7739,
"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,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "CPEB3",
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"hgvs_c": "c.-239+17210A>G",
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"transcript": "XM_047424814.1",
"protein_id": "XP_047280770.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_011539517.3",
"protein_id": "XP_011537819.1",
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"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_011539518.3",
"protein_id": "XP_011537820.1",
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_047424815.1",
"protein_id": "XP_047280771.1",
"transcript_support_level": null,
"aa_start": null,
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"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": 8,
"intron_rank": 1,
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"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_011539519.3",
"protein_id": "XP_011537821.1",
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},
{
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"intron_variant"
],
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
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"transcript": "XM_011539520.3",
"protein_id": "XP_011537822.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_047424819.1",
"protein_id": "XP_047280775.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.-12+17210A>G",
"hgvs_p": null,
"transcript": "XM_047424820.1",
"protein_id": "XP_047280776.1",
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"cdna_start": null,
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"feature": null
}
],
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"dbsnp": "rs17107517",
"frequency_reference_population": 0.35103068,
"hom_count_reference_population": 10516,
"allele_count_reference_population": 53370,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.351031,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 53370,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10516,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.005,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000265997.5",
"gene_symbol": "CPEB3",
"hgnc_id": 21746,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.-12+17210A>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
}