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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: 20-17969990-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17969990&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17969990,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000377710.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "NM_052865.4",
"protein_id": "NP_443097.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 344,
"cds_start": 131,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": "ENST00000377710.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "ENST00000377710.10",
"protein_id": "ENSP00000366939.5",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 344,
"cds_start": 131,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": "NM_052865.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "NM_001310338.2",
"protein_id": "NP_001297267.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 359,
"cds_start": 131,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "NM_001363738.2",
"protein_id": "NP_001350667.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 264,
"cds_start": 131,
"cds_end": null,
"cds_length": 795,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "ENST00000377709.1",
"protein_id": "ENSP00000366938.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 264,
"cds_start": 131,
"cds_end": null,
"cds_length": 795,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "NM_001310339.2",
"protein_id": "NP_001297268.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 252,
"cds_start": 131,
"cds_end": null,
"cds_length": 759,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "ENST00000377704.4",
"protein_id": "ENSP00000366933.4",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 252,
"cds_start": 131,
"cds_end": null,
"cds_length": 759,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_005260867.4",
"protein_id": "XP_005260924.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 359,
"cds_start": 131,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_011529394.1",
"protein_id": "XP_011527696.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 359,
"cds_start": 131,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_017028127.3",
"protein_id": "XP_016883616.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 344,
"cds_start": 131,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_017028128.2",
"protein_id": "XP_016883617.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 344,
"cds_start": 131,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_047440582.1",
"protein_id": "XP_047296538.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 264,
"cds_start": 131,
"cds_end": null,
"cds_length": 795,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_047440583.1",
"protein_id": "XP_047296539.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 264,
"cds_start": 131,
"cds_end": null,
"cds_length": 795,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_006723663.5",
"protein_id": "XP_006723726.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 263,
"cds_start": 131,
"cds_end": null,
"cds_length": 792,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_047440584.1",
"protein_id": "XP_047296540.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 263,
"cds_start": 131,
"cds_end": null,
"cds_length": 792,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_005260870.5",
"protein_id": "XP_005260927.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 248,
"cds_start": 131,
"cds_end": null,
"cds_length": 747,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_047440585.1",
"protein_id": "XP_047296541.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 248,
"cds_start": 131,
"cds_end": null,
"cds_length": 747,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys",
"transcript": "XM_047440586.1",
"protein_id": "XP_047296542.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 248,
"cds_start": 131,
"cds_end": null,
"cds_length": 747,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OVOL2",
"gene_hgnc_id": 15804,
"hgvs_c": "n.492-12953T>C",
"hgvs_p": null,
"transcript": "ENST00000486776.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "n.-67A>G",
"hgvs_p": null,
"transcript": "ENST00000467391.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"hgvs_c": "n.-41A>G",
"hgvs_p": null,
"transcript": "ENST00000463219.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MGME1",
"gene_hgnc_id": 16205,
"dbsnp": "rs767443760",
"frequency_reference_population": 0.00003965225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.000043095,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7995446920394897,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.666,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2057,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.923,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000377710.10",
"gene_symbol": "MGME1",
"hgnc_id": 16205,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Tyr44Cys"
},
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000486776.5",
"gene_symbol": "OVOL2",
"hgnc_id": 15804,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.492-12953T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}