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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: 10-35530190-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35530190&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCNY",
"hgnc_id": 23354,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Trp",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_145012.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9237,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8490254878997803,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5068,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1026,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_145012.6",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5068,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1026,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000374704.8",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4630,
"cdna_start": 631,
"cds_end": null,
"cds_length": 951,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000339497.7",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 287,
"aa_ref": "R",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": 769,
"cds_end": null,
"cds_length": 864,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000265375.13",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 287,
"aa_ref": "R",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 686,
"cds_end": null,
"cds_length": 864,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000374706.5",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1158,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944717.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1050,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944716.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 990,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890615.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 584,
"cds_end": null,
"cds_length": 966,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944715.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Trp",
"intron_rank": null,
"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": "W",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4993,
"cdna_start": 996,
"cds_end": null,
"cds_length": 951,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282852.2",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"intron_rank": null,
"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
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 304,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 926,
"cds_end": null,
"cds_length": 915,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000937101.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607160.1",
"strand": true,
"transcript": "ENST00000937101.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 923,
"cds_end": null,
"cds_length": 867,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944714.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614773.1",
"strand": true,
"transcript": "ENST00000944714.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 287,
"aa_ref": "R",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 864,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001282853.2",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269782.1",
"strand": true,
"transcript": "NM_001282853.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 287,
"aa_ref": "R",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 686,
"cds_end": null,
"cds_length": 864,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_181698.4",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"intron_rank": null,
"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
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 276,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": 915,
"cds_end": null,
"cds_length": 831,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000937099.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Arg111Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607158.1",
"strand": true,
"transcript": "ENST00000937099.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 251,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 798,
"cds_end": null,
"cds_length": 756,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937098.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607157.1",
"strand": true,
"transcript": "ENST00000937098.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 208,
"aa_ref": "R",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": 934,
"cds_end": null,
"cds_length": 627,
"cds_start": 127,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282854.2",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Arg43Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269783.1",
"strand": true,
"transcript": "NM_001282854.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 236,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": null,
"cds_end": null,
"cds_length": 711,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937100.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.265-22829C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607159.1",
"strand": true,
"transcript": "ENST00000937100.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 432,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000465416.5",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "n.106C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000465416.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 809,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000492478.5",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "n.591C>T",
"hgvs_p": null,
"intron_rank": null,
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 100,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 816,
"cdna_start": null,
"cds_end": null,
"cds_length": 303,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000493157.6",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "c.*154C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473625.1",
"strand": true,
"transcript": "ENST00000493157.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 478,
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"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
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"feature": "ENST00000497692.1",
"gene_hgnc_id": 23354,
"gene_symbol": "CCNY",
"hgvs_c": "n.-6C>T",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497692.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs371273756",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013681145,
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"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136811,
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.95,
"pos": 35530190,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.407,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_145012.6"
}
]
}