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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: 1-149934520-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=149934520&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 149934520,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000439741.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.475A>G",
"hgvs_p": "p.Met159Val",
"transcript": "NM_001145862.2",
"protein_id": "NP_001139334.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 709,
"cds_start": 475,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": "ENST00000439741.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.475A>G",
"hgvs_p": "p.Met159Val",
"transcript": "ENST00000439741.4",
"protein_id": "ENSP00000391668.2",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 709,
"cds_start": 475,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": "NM_001145862.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.402A>G",
"hgvs_p": null,
"transcript": "ENST00000466496.5",
"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": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.662A>G",
"hgvs_p": null,
"transcript": "ENST00000482343.5",
"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": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.662A>G",
"hgvs_p": null,
"transcript": "ENST00000492824.5",
"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": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Met87Val",
"transcript": "NM_181873.3",
"protein_id": "NP_870988.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 640,
"cds_start": 259,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Met87Val",
"transcript": "ENST00000369140.7",
"protein_id": "ENSP00000358136.3",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 640,
"cds_start": 259,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.367A>G",
"hgvs_p": "p.Met123Val",
"transcript": "XM_024452578.2",
"protein_id": "XP_024308346.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 673,
"cds_start": 367,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Met87Val",
"transcript": "XM_006711137.2",
"protein_id": "XP_006711200.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 637,
"cds_start": 259,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.259A>G",
"hgvs_p": "p.Met87Val",
"transcript": "XM_047441008.1",
"protein_id": "XP_047296964.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 637,
"cds_start": 259,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.475A>G",
"hgvs_p": "p.Met159Val",
"transcript": "XM_011509099.4",
"protein_id": "XP_011507401.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 412,
"cds_start": 475,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "c.475A>G",
"hgvs_p": "p.Met159Val",
"transcript": "XM_024452592.2",
"protein_id": "XP_024308360.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 382,
"cds_start": 475,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.338A>G",
"hgvs_p": null,
"transcript": "ENST00000479272.1",
"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": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.712A>G",
"hgvs_p": null,
"transcript": "ENST00000482025.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"hgvs_c": "n.707A>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTMR11",
"gene_hgnc_id": 24307,
"dbsnp": "rs11205303",
"frequency_reference_population": 0.37022847,
"hom_count_reference_population": 116305,
"allele_count_reference_population": 597200,
"gnomad_exomes_af": 0.378656,
"gnomad_genomes_af": 0.289299,
"gnomad_exomes_ac": 553189,
"gnomad_genomes_ac": 44011,
"gnomad_exomes_homalt": 108476,
"gnomad_genomes_homalt": 7829,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003039717674255371,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.555,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000439741.4",
"gene_symbol": "MTMR11",
"hgnc_id": 24307,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.475A>G",
"hgvs_p": "p.Met159Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}