← Back to variant description
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: 5-32229807-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=32229807&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTMR12",
"hgnc_id": 18191,
"hgvs_c": "c.2215G>C",
"hgvs_p": "p.Asp739His",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001040446.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7565,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7416621446609497,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 747,
"aa_ref": "D",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 2316,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2215,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001040446.3",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2215G>C",
"hgvs_p": "p.Asp739His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382142.8",
"protein_coding": true,
"protein_id": "NP_001035536.1",
"strand": false,
"transcript": "NM_001040446.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 747,
"aa_ref": "D",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 2316,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2215,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000382142.8",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2215G>C",
"hgvs_p": "p.Asp739His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040446.3",
"protein_coding": true,
"protein_id": "ENSP00000371577.3",
"strand": false,
"transcript": "ENST00000382142.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2082,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000280285.9",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2053G>C",
"hgvs_p": "p.Asp685His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280285.5",
"strand": false,
"transcript": "ENST00000280285.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 795,
"aa_ref": "D",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000851378.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2359G>C",
"hgvs_p": "p.Asp787His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521437.1",
"strand": false,
"transcript": "ENST00000851378.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 794,
"aa_ref": "D",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2385,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000956408.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2356G>C",
"hgvs_p": "p.Asp786His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626467.1",
"strand": false,
"transcript": "ENST00000956408.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 779,
"aa_ref": "D",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2311,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000851375.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2311G>C",
"hgvs_p": "p.Asp771His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521434.1",
"strand": false,
"transcript": "ENST00000851375.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 776,
"aa_ref": "D",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2302,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000927255.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2302G>C",
"hgvs_p": "p.Asp768His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597314.1",
"strand": false,
"transcript": "ENST00000927255.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "D",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000851374.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2263G>C",
"hgvs_p": "p.Asp755His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521433.1",
"strand": false,
"transcript": "ENST00000851374.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 720,
"aa_ref": "D",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 2235,
"cds_end": null,
"cds_length": 2163,
"cds_start": 2134,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000956409.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2134G>C",
"hgvs_p": "p.Asp712His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626468.1",
"strand": false,
"transcript": "ENST00000956409.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 697,
"aa_ref": "D",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 2188,
"cds_end": null,
"cds_length": 2094,
"cds_start": 2065,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000956410.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2065G>C",
"hgvs_p": "p.Asp689His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626469.1",
"strand": false,
"transcript": "ENST00000956410.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4954,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 2082,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001294343.2",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2053G>C",
"hgvs_p": "p.Asp685His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001281272.1",
"strand": false,
"transcript": "NM_001294343.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2798,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2076,
"cds_start": 2047,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000851376.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2047G>C",
"hgvs_p": "p.Asp683His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521435.1",
"strand": false,
"transcript": "ENST00000851376.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 680,
"aa_ref": "D",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 2043,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000851377.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2014G>C",
"hgvs_p": "p.Asp672His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521436.1",
"strand": false,
"transcript": "ENST00000851377.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 679,
"aa_ref": "D",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2040,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000927256.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.2011G>C",
"hgvs_p": "p.Asp671His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597315.1",
"strand": false,
"transcript": "ENST00000927256.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 637,
"aa_ref": "D",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4786,
"cdna_start": 1986,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001294344.2",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.1885G>C",
"hgvs_p": "p.Asp629His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001281273.1",
"strand": false,
"transcript": "NM_001294344.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 637,
"aa_ref": "D",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000264934.5",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.1885G>C",
"hgvs_p": "p.Asp629His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264934.5",
"strand": false,
"transcript": "ENST00000264934.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 625,
"aa_ref": "D",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4820,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1849,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000927254.1",
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"hgvs_c": "c.1849G>C",
"hgvs_p": "p.Asp617His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597313.1",
"strand": false,
"transcript": "ENST00000927254.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1374917487",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 18191,
"gene_symbol": "MTMR12",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.167,
"pos": 32229807,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.565,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001040446.3"
}
]
}