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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: 1-149931961-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=149931961&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 149931961,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001145862.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "NM_001145862.2",
"protein_id": "NP_001139334.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 709,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439741.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145862.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "ENST00000439741.4",
"protein_id": "ENSP00000391668.2",
"transcript_support_level": 2,
"aa_start": 369,
"aa_end": null,
"aa_length": 709,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145862.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439741.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.1449G>A",
"hgvs_p": null,
"transcript": "ENST00000492824.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492824.5"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.611-996G>A",
"hgvs_p": null,
"transcript": "ENST00000466496.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000466496.5"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.871-996G>A",
"hgvs_p": null,
"transcript": "ENST00000482343.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482343.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "ENST00000853977.1",
"protein_id": "ENSP00000524036.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 709,
"cds_start": 1106,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853977.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000853978.1",
"protein_id": "ENSP00000524037.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 675,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853978.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000947774.1",
"protein_id": "ENSP00000617833.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 650,
"cds_start": 929,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947774.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297His",
"transcript": "NM_181873.3",
"protein_id": "NP_870988.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 640,
"cds_start": 890,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181873.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297His",
"transcript": "ENST00000369140.7",
"protein_id": "ENSP00000358136.3",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 640,
"cds_start": 890,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369140.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333His",
"transcript": "XM_024452578.2",
"protein_id": "XP_024308346.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 673,
"cds_start": 998,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452578.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297His",
"transcript": "XM_006711137.2",
"protein_id": "XP_006711200.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 637,
"cds_start": 890,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711137.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297His",
"transcript": "XM_047441008.1",
"protein_id": "XP_047296964.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 637,
"cds_start": 890,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441008.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "XM_011509099.4",
"protein_id": "XP_011507401.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 412,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509099.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "XM_024452592.2",
"protein_id": "XP_024308360.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 382,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452592.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.1499G>A",
"hgvs_p": null,
"transcript": "ENST00000482025.5",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.544G>A",
"hgvs_p": null,
"transcript": "ENST00000493562.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493562.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.1338G>A",
"hgvs_p": null,
"transcript": "XR_007067794.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067794.1"
}
],
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"dbsnp": "rs145612932",
"frequency_reference_population": 0.000014254796,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000143702,
"gnomad_genomes_af": 0.0000131463,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4352651834487915,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.574,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1831,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.716,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145862.2",
"gene_symbol": "MTMR11",
"hgnc_id": 24307,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}