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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: 20-17975870-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17975870&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MGME1",
"hgnc_id": 16205,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001310338.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 4,
"criteria": [
"PP3_Strong",
"PP5",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "OVOL2",
"hgnc_id": 15804,
"hgvs_c": "n.492-18833T>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 5,
"score": 1,
"transcript": "ENST00000486776.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.8168,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "20",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Mitochondrial DNA depletion syndrome 11",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9770101308822632,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Y",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_052865.4",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377710.10",
"protein_coding": true,
"protein_id": "NP_443097.1",
"strand": true,
"transcript": "NM_052865.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Y",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000377710.10",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052865.4",
"protein_coding": true,
"protein_id": "ENSP00000366939.5",
"strand": true,
"transcript": "ENST00000377710.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467391.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "n.314+5500A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467391.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 367,
"aa_ref": "Y",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1104,
"cds_start": 767,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948803.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.767A>G",
"hgvs_p": "p.Tyr256Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618862.1",
"strand": true,
"transcript": "ENST00000948803.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 364,
"aa_ref": "Y",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1095,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895985.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.758A>G",
"hgvs_p": "p.Tyr253Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566044.1",
"strand": true,
"transcript": "ENST00000895985.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 364,
"aa_ref": "Y",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1095,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948799.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.758A>G",
"hgvs_p": "p.Tyr253Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618858.1",
"strand": true,
"transcript": "ENST00000948799.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Y",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1080,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001310338.2",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001297267.1",
"strand": true,
"transcript": "NM_001310338.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Y",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1080,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895978.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566037.1",
"strand": true,
"transcript": "ENST00000895978.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Y",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1080,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895981.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566040.1",
"strand": true,
"transcript": "ENST00000895981.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Y",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1080,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895982.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566041.1",
"strand": true,
"transcript": "ENST00000895982.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 359,
"aa_ref": "Y",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1080,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948798.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Tyr248Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618857.1",
"strand": true,
"transcript": "ENST00000948798.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Y",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895976.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566035.1",
"strand": true,
"transcript": "ENST00000895976.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Y",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000895977.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566036.1",
"strand": true,
"transcript": "ENST00000895977.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Y",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895980.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566039.1",
"strand": true,
"transcript": "ENST00000895980.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Y",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925979.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596038.1",
"strand": true,
"transcript": "ENST00000925979.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Y",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925980.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596039.1",
"strand": true,
"transcript": "ENST00000925980.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 344,
"aa_ref": "Y",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1035,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948800.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Tyr233Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618859.1",
"strand": true,
"transcript": "ENST00000948800.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 339,
"aa_ref": "Y",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1020,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895979.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Tyr228Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566038.1",
"strand": true,
"transcript": "ENST00000895979.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 279,
"aa_ref": "Y",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 626,
"cds_end": null,
"cds_length": 840,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948801.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Tyr168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618860.1",
"strand": true,
"transcript": "ENST00000948801.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 279,
"aa_ref": "Y",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 782,
"cds_end": null,
"cds_length": 840,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948802.1",
"gene_hgnc_id": 16205,
"gene_symbol": "MGME1",
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Tyr168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618861.1",
"strand": true,
"transcript": "ENST00000948802.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 264,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
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