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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: 2-130190486-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130190486&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130190486,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330282.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "NM_025029.5",
"protein_id": "NP_079305.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 158,
"cds_start": 337,
"cds_end": null,
"cds_length": 477,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 599,
"mane_select": "ENST00000281871.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025029.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "ENST00000281871.11",
"protein_id": "ENSP00000281871.7",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 158,
"cds_start": 337,
"cds_end": null,
"cds_length": 477,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 599,
"mane_select": "NM_025029.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281871.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "n.239G>C",
"hgvs_p": null,
"transcript": "ENST00000480182.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 480,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480182.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.517G>C",
"hgvs_p": "p.Ala173Pro",
"transcript": "NM_001330282.2",
"protein_id": "NP_001317211.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 218,
"cds_start": 517,
"cds_end": null,
"cds_length": 657,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330282.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.517G>C",
"hgvs_p": "p.Ala173Pro",
"transcript": "ENST00000409255.1",
"protein_id": "ENSP00000386419.1",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 218,
"cds_start": 517,
"cds_end": null,
"cds_length": 657,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409255.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.466G>C",
"hgvs_p": "p.Ala156Pro",
"transcript": "ENST00000948926.1",
"protein_id": "ENSP00000618985.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 201,
"cds_start": 466,
"cds_end": null,
"cds_length": 606,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948926.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.388G>C",
"hgvs_p": "p.Ala130Pro",
"transcript": "ENST00000916359.1",
"protein_id": "ENSP00000586418.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 175,
"cds_start": 388,
"cds_end": null,
"cds_length": 528,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916359.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.331G>C",
"hgvs_p": "p.Ala111Pro",
"transcript": "ENST00000651060.1",
"protein_id": "ENSP00000498754.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 156,
"cds_start": 331,
"cds_end": null,
"cds_length": 471,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651060.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.286G>C",
"hgvs_p": "p.Ala96Pro",
"transcript": "ENST00000916358.1",
"protein_id": "ENSP00000586417.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 141,
"cds_start": 286,
"cds_end": null,
"cds_length": 426,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916358.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.188G>C",
"hgvs_p": "p.Arg63Pro",
"transcript": "NM_001330284.2",
"protein_id": "NP_001317213.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 130,
"cds_start": 188,
"cds_end": null,
"cds_length": 393,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330284.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.226G>C",
"hgvs_p": "p.Ala76Pro",
"transcript": "ENST00000425361.5",
"protein_id": "ENSP00000398749.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 121,
"cds_start": 226,
"cds_end": null,
"cds_length": 366,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425361.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.226G>C",
"hgvs_p": "p.Ala76Pro",
"transcript": "ENST00000457492.5",
"protein_id": "ENSP00000387805.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 121,
"cds_start": 226,
"cds_end": null,
"cds_length": 366,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457492.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.158G>C",
"hgvs_p": "p.Arg53Pro",
"transcript": "ENST00000455239.1",
"protein_id": "ENSP00000404629.1",
"transcript_support_level": 2,
"aa_start": 53,
"aa_end": null,
"aa_length": 120,
"cds_start": 158,
"cds_end": null,
"cds_length": 363,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455239.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.203G>C",
"hgvs_p": "p.Arg68Pro",
"transcript": "XM_047445915.1",
"protein_id": "XP_047301871.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 135,
"cds_start": 203,
"cds_end": null,
"cds_length": 408,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"hgvs_c": "c.319+7711G>C",
"hgvs_p": null,
"transcript": "XM_047445914.1",
"protein_id": "XP_047301870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445914.1"
}
],
"gene_symbol": "MZT2B",
"gene_hgnc_id": 25886,
"dbsnp": "rs754224613",
"frequency_reference_population": 6.843297e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8433e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06466254591941833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.094,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001330282.2",
"gene_symbol": "MZT2B",
"hgnc_id": 25886,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.517G>C",
"hgvs_p": "p.Ala173Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}