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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: 17-12996646-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=12996646&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ELAC2",
"hgnc_id": 14198,
"hgvs_c": "c.1560A>T",
"hgvs_p": "p.Thr520Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_018127.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Combined oxidative phosphorylation defect type 17",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 826,
"aa_ref": "T",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_018127.7",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1560A>T",
"hgvs_p": "p.Thr520Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338034.9",
"protein_coding": true,
"protein_id": "NP_060597.4",
"strand": false,
"transcript": "NM_018127.7",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 826,
"aa_ref": "T",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000338034.9",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1560A>T",
"hgvs_p": "p.Thr520Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018127.7",
"protein_coding": true,
"protein_id": "ENSP00000337445.4",
"strand": false,
"transcript": "ENST00000338034.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 860,
"aa_ref": "T",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3069,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1662,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923774.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1662A>T",
"hgvs_p": "p.Thr554Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593833.1",
"strand": false,
"transcript": "ENST00000923774.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 834,
"aa_ref": "T",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1584,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000860253.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1584A>T",
"hgvs_p": "p.Thr528Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530312.1",
"strand": false,
"transcript": "ENST00000860253.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 830,
"aa_ref": "T",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1572,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000923773.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1572A>T",
"hgvs_p": "p.Thr524Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593832.1",
"strand": false,
"transcript": "ENST00000923773.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 828,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3782,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 2487,
"cds_start": 1566,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000923771.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1566A>T",
"hgvs_p": "p.Thr522Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593830.1",
"strand": false,
"transcript": "ENST00000923771.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 827,
"aa_ref": "T",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2484,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000860251.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1560A>T",
"hgvs_p": "p.Thr520Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530310.1",
"strand": false,
"transcript": "ENST00000860251.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 826,
"aa_ref": "T",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1557,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000860249.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1557A>T",
"hgvs_p": "p.Thr519Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530308.1",
"strand": false,
"transcript": "ENST00000860249.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 825,
"aa_ref": "T",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1557,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_173717.2",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1557A>T",
"hgvs_p": "p.Thr519Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_776065.1",
"strand": false,
"transcript": "NM_173717.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 825,
"aa_ref": "T",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1557,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000860246.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1557A>T",
"hgvs_p": "p.Thr519Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530305.1",
"strand": false,
"transcript": "ENST00000860246.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 824,
"aa_ref": "T",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000860247.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1560A>T",
"hgvs_p": "p.Thr520Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530306.1",
"strand": false,
"transcript": "ENST00000860247.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 824,
"aa_ref": "T",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000961321.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1560A>T",
"hgvs_p": "p.Thr520Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631380.1",
"strand": false,
"transcript": "ENST00000961321.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 823,
"aa_ref": "T",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1557,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000923772.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1557A>T",
"hgvs_p": "p.Thr519Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593831.1",
"strand": false,
"transcript": "ENST00000923772.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 819,
"aa_ref": "T",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1539,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000961322.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1539A>T",
"hgvs_p": "p.Thr513Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631381.1",
"strand": false,
"transcript": "ENST00000961322.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 813,
"aa_ref": "T",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2926,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000923775.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1560A>T",
"hgvs_p": "p.Thr520Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593834.1",
"strand": false,
"transcript": "ENST00000923775.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 812,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000860250.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1518A>T",
"hgvs_p": "p.Thr506Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530309.1",
"strand": false,
"transcript": "ENST00000860250.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 811,
"aa_ref": "T",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1515,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000860254.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1515A>T",
"hgvs_p": "p.Thr505Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530313.1",
"strand": false,
"transcript": "ENST00000860254.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 807,
"aa_ref": "T",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1503,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000395962.6",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1503A>T",
"hgvs_p": "p.Thr501Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379291.1",
"strand": false,
"transcript": "ENST00000395962.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
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"aa_length": 804,
"aa_ref": "T",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1560,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000860252.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1560A>T",
"hgvs_p": "p.Thr520Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530311.1",
"strand": false,
"transcript": "ENST00000860252.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "T",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1491,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000961320.1",
"gene_hgnc_id": 14198,
"gene_symbol": "ELAC2",
"hgvs_c": "c.1491A>T",
"hgvs_p": "p.Thr497Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631379.1",
"strand": false,
"transcript": "ENST00000961320.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 786,
"aa_ref": "T",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1440,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
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