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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: 5-32229867-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=32229867&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 32229867,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001040446.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Val719Ile",
"transcript": "NM_001040446.3",
"protein_id": "NP_001035536.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 747,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382142.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040446.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Val719Ile",
"transcript": "ENST00000382142.8",
"protein_id": "ENSP00000371577.3",
"transcript_support_level": 1,
"aa_start": 719,
"aa_end": null,
"aa_length": 747,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040446.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382142.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Val665Ile",
"transcript": "ENST00000280285.9",
"protein_id": "ENSP00000280285.5",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 693,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280285.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Val767Ile",
"transcript": "ENST00000851378.1",
"protein_id": "ENSP00000521437.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 795,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851378.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2296G>A",
"hgvs_p": "p.Val766Ile",
"transcript": "ENST00000956408.1",
"protein_id": "ENSP00000626467.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 794,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956408.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2251G>A",
"hgvs_p": "p.Val751Ile",
"transcript": "ENST00000851375.1",
"protein_id": "ENSP00000521434.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 779,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851375.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2242G>A",
"hgvs_p": "p.Val748Ile",
"transcript": "ENST00000927255.1",
"protein_id": "ENSP00000597314.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 776,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927255.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Val735Ile",
"transcript": "ENST00000851374.1",
"protein_id": "ENSP00000521433.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 763,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851374.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000956409.1",
"protein_id": "ENSP00000626468.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 720,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956409.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.2005G>A",
"hgvs_p": "p.Val669Ile",
"transcript": "ENST00000956410.1",
"protein_id": "ENSP00000626469.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 697,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956410.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Val665Ile",
"transcript": "NM_001294343.2",
"protein_id": "NP_001281272.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 693,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294343.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Val663Ile",
"transcript": "ENST00000851376.1",
"protein_id": "ENSP00000521435.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 691,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851376.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Val652Ile",
"transcript": "ENST00000851377.1",
"protein_id": "ENSP00000521436.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 680,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851377.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Val651Ile",
"transcript": "ENST00000927256.1",
"protein_id": "ENSP00000597315.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 679,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927256.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Val609Ile",
"transcript": "NM_001294344.2",
"protein_id": "NP_001281273.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 637,
"cds_start": 1825,
"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": "NM_001294344.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Val609Ile",
"transcript": "ENST00000264934.5",
"protein_id": "ENSP00000264934.5",
"transcript_support_level": 2,
"aa_start": 609,
"aa_end": null,
"aa_length": 637,
"cds_start": 1825,
"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": "ENST00000264934.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Ile",
"transcript": "ENST00000927254.1",
"protein_id": "ENSP00000597313.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 625,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927254.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"hgvs_c": "n.*218G>A",
"hgvs_p": null,
"transcript": "ENST00000510216.1",
"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": "pseudogene",
"feature": "ENST00000510216.1"
}
],
"gene_symbol": "MTMR12",
"gene_hgnc_id": 18191,
"dbsnp": "rs371615950",
"frequency_reference_population": 0.000047246816,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.000050124,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.059382468461990356,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.0813,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.678,
"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_001040446.3",
"gene_symbol": "MTMR12",
"hgnc_id": 18191,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Val719Ile"
}
],
"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
}