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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: 22-39134006-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39134006&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CBX7",
"hgnc_id": 1557,
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ala214Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_175709.5",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000279833",
"hgnc_id": 58395,
"hgvs_c": "n.917G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000624656.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.0692,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.026530414819717407,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 251,
"aa_ref": "A",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4111,
"cdna_start": 877,
"cds_end": null,
"cds_length": 756,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_175709.5",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ala214Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216133.10",
"protein_coding": true,
"protein_id": "NP_783640.1",
"strand": false,
"transcript": "NM_175709.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 251,
"aa_ref": "A",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4111,
"cdna_start": 877,
"cds_end": null,
"cds_length": 756,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000216133.10",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ala214Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_175709.5",
"protein_coding": true,
"protein_id": "ENSP00000216133.5",
"strand": false,
"transcript": "ENST00000216133.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 158,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 784,
"cdna_start": 362,
"cds_end": null,
"cds_length": 477,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000401405.7",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384035.3",
"strand": false,
"transcript": "ENST00000401405.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 821,
"cds_end": null,
"cds_length": 834,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858784.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528843.1",
"strand": false,
"transcript": "ENST00000858784.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "A",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 929,
"cds_end": null,
"cds_length": 780,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858777.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.665C>T",
"hgvs_p": "p.Ala222Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528836.1",
"strand": false,
"transcript": "ENST00000858777.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 258,
"aa_ref": "A",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 866,
"cds_end": null,
"cds_length": 777,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858781.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528840.1",
"strand": false,
"transcript": "ENST00000858781.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 250,
"aa_ref": "A",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 874,
"cds_end": null,
"cds_length": 753,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001346743.2",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ala213Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333672.1",
"strand": false,
"transcript": "NM_001346743.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 250,
"aa_ref": "A",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": 913,
"cds_end": null,
"cds_length": 753,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858776.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ala213Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528835.1",
"strand": false,
"transcript": "ENST00000858776.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 200,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 611,
"cds_end": null,
"cds_length": 603,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944730.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614789.1",
"strand": false,
"transcript": "ENST00000944730.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 613,
"cds_end": null,
"cds_length": 600,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858782.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528841.1",
"strand": false,
"transcript": "ENST00000858782.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 192,
"aa_ref": "A",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 702,
"cds_end": null,
"cds_length": 579,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858778.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528837.1",
"strand": false,
"transcript": "ENST00000858778.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 191,
"aa_ref": "A",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 678,
"cds_end": null,
"cds_length": 576,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858780.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Ala154Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528839.1",
"strand": false,
"transcript": "ENST00000858780.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 178,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 595,
"cds_end": null,
"cds_length": 537,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944729.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614788.1",
"strand": false,
"transcript": "ENST00000944729.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 166,
"aa_ref": "A",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3717,
"cdna_start": 496,
"cds_end": null,
"cds_length": 501,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944731.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ala129Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614790.1",
"strand": false,
"transcript": "ENST00000944731.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 165,
"aa_ref": "A",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 491,
"cds_end": null,
"cds_length": 498,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858783.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528842.1",
"strand": false,
"transcript": "ENST00000858783.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 158,
"aa_ref": "A",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3832,
"cdna_start": 598,
"cds_end": null,
"cds_length": 477,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001346744.2",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ala121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333673.1",
"strand": false,
"transcript": "NM_001346744.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 157,
"aa_ref": "A",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 595,
"cds_end": null,
"cds_length": 474,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858779.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Ala120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528838.1",
"strand": false,
"transcript": "ENST00000858779.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 136,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3724,
"cdna_start": 503,
"cds_end": null,
"cds_length": 411,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944728.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "c.296C>T",
"hgvs_p": "p.Ala99Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614787.1",
"strand": false,
"transcript": "ENST00000944728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000490741.1",
"gene_hgnc_id": 1557,
"gene_symbol": "CBX7",
"hgvs_c": "n.419C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490741.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000624656.1",
"gene_hgnc_id": 58395,
"gene_symbol": "ENSG00000279833",
"hgvs_c": "n.917G>A",
"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": "ENST00000624656.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475962.5",
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}
],
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]
}