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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: 6-73482118-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73482118&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73482118,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000498286.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Ile447Val",
"transcript": "NM_012123.4",
"protein_id": "NP_036255.2",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 692,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 10698,
"mane_select": "ENST00000498286.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Ile447Val",
"transcript": "ENST00000498286.6",
"protein_id": "ENSP00000419561.2",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 692,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 10698,
"mane_select": "NM_012123.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1459A>G",
"hgvs_p": "p.Ile487Val",
"transcript": "ENST00000415954.6",
"protein_id": "ENSP00000402038.2",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 732,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000370300.8",
"protein_id": "ENSP00000359323.4",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 717,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Ile398Val",
"transcript": "ENST00000370305.5",
"protein_id": "ENSP00000359328.1",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 643,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.1520A>G",
"hgvs_p": null,
"transcript": "ENST00000370308.8",
"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": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1459A>G",
"hgvs_p": "p.Ile487Val",
"transcript": "NM_001123226.2",
"protein_id": "NP_001116698.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 732,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 10818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_133645.3",
"protein_id": "NP_598400.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 717,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 10773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1117A>G",
"hgvs_p": "p.Ile373Val",
"transcript": "ENST00000680686.1",
"protein_id": "ENSP00000506609.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 618,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Ile353Val",
"transcript": "ENST00000681500.1",
"protein_id": "ENSP00000506439.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 598,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Ile447Val",
"transcript": "ENST00000681204.1",
"protein_id": "ENSP00000505819.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 589,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1117A>G",
"hgvs_p": "p.Ile373Val",
"transcript": "ENST00000521156.6",
"protein_id": "ENSP00000428863.2",
"transcript_support_level": 2,
"aa_start": 373,
"aa_end": null,
"aa_length": 515,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*470A>G",
"hgvs_p": null,
"transcript": "ENST00000415228.5",
"protein_id": "ENSP00000416397.1",
"transcript_support_level": 5,
"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": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*470A>G",
"hgvs_p": null,
"transcript": "ENST00000442897.7",
"protein_id": "ENSP00000396529.2",
"transcript_support_level": 4,
"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": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*481A>G",
"hgvs_p": null,
"transcript": "ENST00000445187.6",
"protein_id": "ENSP00000407580.2",
"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": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.1361A>G",
"hgvs_p": null,
"transcript": "ENST00000462039.5",
"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": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.1421A>G",
"hgvs_p": null,
"transcript": "ENST00000487960.2",
"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": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*882A>G",
"hgvs_p": null,
"transcript": "ENST00000522205.6",
"protein_id": "ENSP00000428903.2",
"transcript_support_level": 4,
"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": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.1339A>G",
"hgvs_p": null,
"transcript": "ENST00000523763.2",
"protein_id": "ENSP00000429595.2",
"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": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*932A>G",
"hgvs_p": null,
"transcript": "ENST00000524046.2",
"protein_id": "ENSP00000430660.2",
"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": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*711A>G",
"hgvs_p": null,
"transcript": "ENST00000679352.1",
"protein_id": "ENSP00000505776.1",
"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": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*481A>G",
"hgvs_p": null,
"transcript": "ENST00000679364.1",
"protein_id": "ENSP00000505626.1",
"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": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*1134A>G",
"hgvs_p": null,
"transcript": "ENST00000679411.1",
"protein_id": "ENSP00000506532.1",
"transcript_support_level": null,
"aa_start": null,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.0678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.032,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000498286.6",
"gene_symbol": "MTO1",
"hgnc_id": 19261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Ile447Val"
}
],
"clinvar_disease": "Inborn genetic diseases,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}