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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: 10-35352643-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35352643&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CCNY",
"hgnc_id": 23354,
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_145012.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 56882,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5068,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_145012.6",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374704.8",
"protein_coding": true,
"protein_id": "NP_659449.3",
"strand": true,
"transcript": "NM_145012.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5068,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374704.8",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145012.6",
"protein_coding": true,
"protein_id": "ENSP00000363836.4",
"strand": true,
"transcript": "ENST00000374704.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 316,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4630,
"cdna_start": null,
"cds_end": null,
"cds_length": 951,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000339497.7",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344275.5",
"strand": true,
"transcript": "ENST00000339497.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 287,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": null,
"cds_end": null,
"cds_length": 864,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265375.13",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.-72+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265375.9",
"strand": true,
"transcript": "ENST00000265375.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 287,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": null,
"cds_end": null,
"cds_length": 864,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374706.5",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.-9+102017G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363838.1",
"strand": true,
"transcript": "ENST00000374706.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944717.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614776.1",
"strand": true,
"transcript": "ENST00000944717.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944716.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614775.1",
"strand": true,
"transcript": "ENST00000944716.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 329,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": null,
"cds_end": null,
"cds_length": 990,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890615.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560674.1",
"strand": true,
"transcript": "ENST00000890615.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 321,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": null,
"cds_end": null,
"cds_length": 966,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944715.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614774.1",
"strand": true,
"transcript": "ENST00000944715.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 316,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4993,
"cdna_start": null,
"cds_end": null,
"cds_length": 951,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282852.2",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269781.1",
"strand": true,
"transcript": "NM_001282852.2",
"transcript_support_level": null
},
{
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"aa_length": 304,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": null,
"cds_end": null,
"cds_length": 915,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937101.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000607160.1",
"strand": true,
"transcript": "ENST00000937101.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": null,
"cds_end": null,
"cds_length": 867,
"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000944714.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000614773.1",
"strand": true,
"transcript": "ENST00000944714.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
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"feature": "NM_001282853.2",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001269782.1",
"strand": true,
"transcript": "NM_001282853.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181698.4",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.-9+102017G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_859049.2",
"strand": true,
"transcript": "NM_181698.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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],
"exon_count": 7,
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"feature": "ENST00000937099.1",
"gene_hgnc_id": 23354,
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"hgvs_c": "c.154+15436G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000607158.1",
"strand": true,
"transcript": "ENST00000937099.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000937098.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000607157.1",
"strand": true,
"transcript": "ENST00000937098.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3441,
"cdna_start": null,
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"cds_length": 711,
"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000937100.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.154+15436G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000607159.1",
"strand": true,
"transcript": "ENST00000937100.1",
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},
{
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],
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"feature": "NM_001282854.2",
"gene_hgnc_id": 23354,
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"strand": true,
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"consequences": [
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],
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"feature": "ENST00000493157.6",
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"protein_coding": true,
"protein_id": "ENSP00000473625.1",
"strand": true,
"transcript": "ENST00000493157.6",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000490012.6",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.-116+20206G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473487.1",
"strand": true,
"transcript": "ENST00000490012.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 809,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492478.5",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "n.156+15436G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000492478.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2474519",
"effect": "intron_variant",
"frequency_reference_population": 0.37390882,
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"gnomad_exomes_ac": null,
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}
]
}