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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: 13-49506740-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49506740&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": "SETDB2-PHF11",
"hgnc_id": null,
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Ala561Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001320727.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHF11",
"hgnc_id": 17024,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001040443.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.5187,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5329493284225464,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 249,
"cds_end": null,
"cds_length": 996,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001040443.3",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378319.8",
"protein_coding": true,
"protein_id": "NP_001035533.1",
"strand": true,
"transcript": "NM_001040443.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 249,
"cds_end": null,
"cds_length": 996,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378319.8",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040443.3",
"protein_coding": true,
"protein_id": "ENSP00000367570.3",
"strand": true,
"transcript": "ENST00000378319.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 211,
"cds_end": null,
"cds_length": 879,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000488958.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417539.1",
"strand": true,
"transcript": "ENST00000488958.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1626,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000465045.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "n.83C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418630.1",
"strand": true,
"transcript": "ENST00000465045.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 825,
"aa_ref": "A",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 2607,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001320727.2",
"gene_hgnc_id": null,
"gene_symbol": "SETDB2-PHF11",
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Ala561Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307656.1",
"strand": true,
"transcript": "NM_001320727.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 990,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000941732.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611791.1",
"strand": true,
"transcript": "ENST00000941732.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 327,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": 235,
"cds_end": null,
"cds_length": 984,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000873990.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544049.1",
"strand": true,
"transcript": "ENST00000873990.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 307,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1285,
"cdna_start": 252,
"cds_end": null,
"cds_length": 924,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000873989.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544048.1",
"strand": true,
"transcript": "ENST00000873989.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 411,
"cds_end": null,
"cds_length": 879,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001040444.3",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035534.1",
"strand": true,
"transcript": "NM_001040444.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 764,
"cds_end": null,
"cds_length": 879,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001419873.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406802.1",
"strand": true,
"transcript": "NM_001419873.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 798,
"cds_end": null,
"cds_length": 879,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001419874.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406803.1",
"strand": true,
"transcript": "NM_001419874.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 602,
"cds_end": null,
"cds_length": 879,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001419875.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406804.1",
"strand": true,
"transcript": "NM_001419875.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 292,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 636,
"cds_end": null,
"cds_length": 879,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001419876.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406805.1",
"strand": true,
"transcript": "NM_001419876.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 359,
"cds_end": null,
"cds_length": 879,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000357596.7",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350209.3",
"strand": true,
"transcript": "ENST00000357596.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 245,
"cds_end": null,
"cds_length": 750,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000941733.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611792.1",
"strand": true,
"transcript": "ENST00000941733.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 167,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 610,
"cdna_start": 189,
"cds_end": null,
"cds_length": 504,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000442195.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405227.1",
"strand": true,
"transcript": "ENST00000442195.5",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 159,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1173,
"cdna_start": 232,
"cds_end": null,
"cds_length": 480,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000496623.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483500.1",
"strand": true,
"transcript": "ENST00000496623.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 97,
"aa_ref": "A",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": 354,
"cds_end": null,
"cds_length": 295,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000485919.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Ala28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420129.1",
"strand": true,
"transcript": "ENST00000485919.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 285,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": null,
"cds_end": null,
"cds_length": 858,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426879.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.79-6319C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394883.1",
"strand": true,
"transcript": "ENST00000426879.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": null,
"cds_end": null,
"cds_length": 399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496612.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.13-6319C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419229.1",
"strand": true,
"transcript": "ENST00000496612.5",
"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": 703,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
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