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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: 10-97452473-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97452473&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZDHHC16",
"hgnc_id": 20714,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_032327.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.5831,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5262093544006348,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1134,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198046.3",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393760.6",
"protein_coding": true,
"protein_id": "NP_932163.1",
"strand": true,
"transcript": "NM_198046.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1134,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393760.6",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198046.3",
"protein_coding": true,
"protein_id": "ENSP00000377357.1",
"strand": true,
"transcript": "ENST00000393760.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1798,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1134,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000370854.7",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359891.3",
"strand": true,
"transcript": "ENST00000370854.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 361,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1086,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000352634.8",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345383.4",
"strand": true,
"transcript": "ENST00000352634.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 338,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1017,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000353979.7",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323360.3",
"strand": true,
"transcript": "ENST00000353979.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 296,
"aa_ref": "A",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 451,
"cds_end": null,
"cds_length": 891,
"cds_start": 302,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000345745.9",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000304487.8",
"strand": true,
"transcript": "ENST00000345745.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 384,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1155,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862048.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532107.1",
"strand": true,
"transcript": "ENST00000862048.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1134,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_032327.4",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115703.2",
"strand": true,
"transcript": "NM_032327.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 1134,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951312.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621371.1",
"strand": true,
"transcript": "ENST00000951312.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 376,
"aa_ref": "A",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1131,
"cds_start": 494,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951305.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ala165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621364.1",
"strand": true,
"transcript": "ENST00000951305.1",
"transcript_support_level": null
},
{
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"aa_length": 361,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1086,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_198043.3",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_932160.1",
"strand": true,
"transcript": "NM_198043.3",
"transcript_support_level": null
},
{
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"aa_length": 361,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1086,
"cds_start": 497,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 5,
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"feature": "ENST00000370842.6",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359879.1",
"strand": true,
"transcript": "ENST00000370842.6",
"transcript_support_level": 5
},
{
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"aa_length": 361,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 1109,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000862058.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532117.1",
"strand": true,
"transcript": "ENST00000862058.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 361,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1086,
"cds_start": 497,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916030.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586089.1",
"strand": true,
"transcript": "ENST00000916030.1",
"transcript_support_level": null
},
{
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"aa_length": 361,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1020,
"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916031.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586090.1",
"strand": true,
"transcript": "ENST00000916031.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 360,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1083,
"cds_start": 494,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951308.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ala165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621367.1",
"strand": true,
"transcript": "ENST00000951308.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1080,
"cds_start": 497,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001287803.2",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274732.1",
"strand": true,
"transcript": "NM_001287803.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 345,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1038,
"cds_start": 497,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862049.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532108.1",
"strand": true,
"transcript": "ENST00000862049.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 345,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1038,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862056.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532115.1",
"strand": true,
"transcript": "ENST00000862056.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 338,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1017,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_198044.3",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_932161.1",
"strand": true,
"transcript": "NM_198044.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 338,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1017,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862047.1",
"gene_hgnc_id": 20714,
"gene_symbol": "ZDHHC16",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532106.1",
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