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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: 5-32235018-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=32235018&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 32235018,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001040446.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val",
"transcript": "NM_001040446.3",
"protein_id": "NP_001035536.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 747,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": "ENST00000382142.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040446.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val",
"transcript": "ENST00000382142.8",
"protein_id": "ENSP00000371577.3",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 747,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": "NM_001040446.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382142.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val",
"transcript": "ENST00000280285.9",
"protein_id": "ENSP00000280285.5",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 693,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280285.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1600A>G",
"hgvs_p": "p.Ile534Val",
"transcript": "ENST00000851378.1",
"protein_id": "ENSP00000521437.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 795,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851378.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "ENST00000956408.1",
"protein_id": "ENSP00000626467.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 794,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 3773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956408.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1552A>G",
"hgvs_p": "p.Ile518Val",
"transcript": "ENST00000851375.1",
"protein_id": "ENSP00000521434.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 779,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851375.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1543A>G",
"hgvs_p": "p.Ile515Val",
"transcript": "ENST00000927255.1",
"protein_id": "ENSP00000597314.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 776,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927255.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val",
"transcript": "ENST00000851374.1",
"protein_id": "ENSP00000521433.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 763,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851374.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val",
"transcript": "NM_001294343.2",
"protein_id": "NP_001281272.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 693,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294343.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val",
"transcript": "ENST00000851377.1",
"protein_id": "ENSP00000521436.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 680,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851377.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Ile418Val",
"transcript": "ENST00000927256.1",
"protein_id": "ENSP00000597315.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 679,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927256.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Ile418Val",
"transcript": "ENST00000927254.1",
"protein_id": "ENSP00000597313.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 625,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927254.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1432-1084A>G",
"hgvs_p": null,
"transcript": "ENST00000956409.1",
"protein_id": "ENSP00000626468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956409.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1363-1084A>G",
"hgvs_p": null,
"transcript": "ENST00000956410.1",
"protein_id": "ENSP00000626469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": null,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1345-1084A>G",
"hgvs_p": null,
"transcript": "ENST00000851376.1",
"protein_id": "ENSP00000521435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851376.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1344+3983A>G",
"hgvs_p": null,
"transcript": "NM_001294344.2",
"protein_id": "NP_001281273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294344.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1344+3983A>G",
"hgvs_p": null,
"transcript": "ENST00000264934.5",
"protein_id": "ENSP00000264934.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264934.5"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNU6-1079P",
"gene_hgnc_id": 48042,
"hgvs_c": "n.-143A>G",
"hgvs_p": null,
"transcript": "ENST00000362861.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 110,
"mane_select": null,
"mane_plus": null,
"biotype": "snRNA",
"feature": "ENST00000362861.1"
}
],
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"dbsnp": "rs914802225",
"frequency_reference_population": 0.0000024785297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205248,
"gnomad_genomes_af": 0.00000656961,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15215450525283813,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.33000001311302185,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.0933,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.877,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.33,
"spliceai_max_prediction": "Uncertain_significance",
"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_001040446.3",
"gene_symbol": "MTMR12",
"hgnc_id": 18191,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1456A>G",
"hgvs_p": "p.Ile486Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000362861.1",
"gene_symbol": "RNU6-1079P",
"hgnc_id": 48042,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-143A>G",
"hgvs_p": null
}
],
"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
}