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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: X-129806400-T-TGGCTGTGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=129806400&ref=T&alt=TGGCTGTGGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM4",
"BP6_Moderate",
"BS2"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "ZDHHC9",
"hgnc_id": 18475,
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_016032.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BP6_Moderate,BS2",
"acmg_score": -4,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGGCTGTGGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Syndromic X-linked intellectual disability Raymond type",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4571,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_016032.4",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357166.11",
"protein_coding": true,
"protein_id": "NP_057116.2",
"strand": false,
"transcript": "NM_016032.4",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4571,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000357166.11",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016032.4",
"protein_coding": true,
"protein_id": "ENSP00000349689.6",
"strand": false,
"transcript": "ENST00000357166.11",
"transcript_support_level": 1
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000371064.7",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360103.3",
"strand": false,
"transcript": "ENST00000371064.7",
"transcript_support_level": 1
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 394,
"aa_ref": "P",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1154,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000860167.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1154_1155insCCCACAGCC",
"hgvs_p": "p.Pro385_Pro386insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530226.1",
"strand": false,
"transcript": "ENST00000860167.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 394,
"aa_ref": "P",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1154,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939989.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1154_1155insCCCACAGCC",
"hgvs_p": "p.Pro385_Pro386insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610048.1",
"strand": false,
"transcript": "ENST00000939989.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001008222.3",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008223.1",
"strand": false,
"transcript": "NM_001008222.3",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860168.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530227.1",
"strand": false,
"transcript": "ENST00000860168.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860169.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530228.1",
"strand": false,
"transcript": "ENST00000860169.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860172.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530231.1",
"strand": false,
"transcript": "ENST00000860172.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860173.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530232.1",
"strand": false,
"transcript": "ENST00000860173.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939982.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610041.1",
"strand": false,
"transcript": "ENST00000939982.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4421,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939984.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610043.1",
"strand": false,
"transcript": "ENST00000939984.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939985.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610044.1",
"strand": false,
"transcript": "ENST00000939985.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 364,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1064,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939986.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1064_1065insCCCACAGCC",
"hgvs_p": "p.Pro355_Pro356insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610045.1",
"strand": false,
"transcript": "ENST00000939986.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1061,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000860170.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1061_1062insCCCACAGCC",
"hgvs_p": "p.Pro354_Pro355insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530229.1",
"strand": false,
"transcript": "ENST00000860170.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1061,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939988.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1061_1062insCCCACAGCC",
"hgvs_p": "p.Pro354_Pro355insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610047.1",
"strand": false,
"transcript": "ENST00000939988.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1061,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000966618.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1061_1062insCCCACAGCC",
"hgvs_p": "p.Pro354_Pro355insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636677.1",
"strand": false,
"transcript": "ENST00000966618.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1049,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000966617.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.1049_1050insCCCACAGCC",
"hgvs_p": "p.Pro350_Pro351insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636676.1",
"strand": false,
"transcript": "ENST00000966617.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1008,
"cds_start": 977,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860166.1",
"gene_hgnc_id": 18475,
"gene_symbol": "ZDHHC9",
"hgvs_c": "c.977_978insCCCACAGCC",
"hgvs_p": "p.Pro326_Pro327insProGlnPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530225.1",
"strand": false,
"transcript": "ENST00000860166.1",
"transcript_support_level": null
},
{
"aa_alt": "PPQP",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1008,
"cds_start": 977,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860171.1",
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}