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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: 7-149765108-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=149765108&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 149765108,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_207336.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "NM_207336.3",
"protein_id": "NP_997219.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": "ENST00000302017.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207336.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000302017.4",
"protein_id": "ENSP00000304769.3",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": "NM_207336.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302017.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Asp505Gly",
"transcript": "ENST00000882874.1",
"protein_id": "ENSP00000552933.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 635,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882874.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882861.1",
"protein_id": "ENSP00000552920.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882861.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882862.1",
"protein_id": "ENSP00000552921.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882862.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882863.1",
"protein_id": "ENSP00000552922.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882863.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882864.1",
"protein_id": "ENSP00000552923.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882864.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882865.1",
"protein_id": "ENSP00000552924.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882865.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882866.1",
"protein_id": "ENSP00000552925.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882866.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882868.1",
"protein_id": "ENSP00000552927.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882868.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882869.1",
"protein_id": "ENSP00000552928.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882869.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882871.1",
"protein_id": "ENSP00000552930.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882871.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882873.1",
"protein_id": "ENSP00000552932.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882873.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882875.1",
"protein_id": "ENSP00000552934.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882875.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882877.1",
"protein_id": "ENSP00000552936.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882877.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882878.1",
"protein_id": "ENSP00000552937.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882878.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882879.1",
"protein_id": "ENSP00000552938.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882879.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882880.1",
"protein_id": "ENSP00000552939.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882880.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882881.1",
"protein_id": "ENSP00000552940.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882881.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882882.1",
"protein_id": "ENSP00000552941.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882882.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882886.1",
"protein_id": "ENSP00000552945.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882886.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF467",
"gene_hgnc_id": 23154,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly",
"transcript": "ENST00000882887.1",
"protein_id": "ENSP00000552946.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 595,
"cds_start": 1394,
"cds_end": null,
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"computational_score_selected": 0.04256632924079895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0911,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.919,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_207336.3",
"gene_symbol": "ZNF467",
"hgnc_id": 23154,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Asp465Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}