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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: 22-46350309-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46350309&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46350309,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000645190.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Ala166Glu",
"transcript": "NM_018006.5",
"protein_id": "NP_060476.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 421,
"cds_start": 497,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": "ENST00000645190.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Ala166Glu",
"transcript": "ENST00000645190.1",
"protein_id": "ENSP00000496496.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 421,
"cds_start": 497,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": "NM_018006.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Ala166Glu",
"transcript": "ENST00000381019.3",
"protein_id": "ENSP00000370407.3",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 376,
"cds_start": 497,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*72-41C>A",
"hgvs_p": null,
"transcript": "ENST00000441818.5",
"protein_id": "ENSP00000393014.1",
"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": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*72-41C>A",
"hgvs_p": null,
"transcript": "ENST00000456595.5",
"protein_id": "ENSP00000413880.1",
"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": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Ala166Glu",
"transcript": "NM_001282785.2",
"protein_id": "NP_001269714.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 376,
"cds_start": 497,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.392C>A",
"hgvs_p": "p.Ala131Glu",
"transcript": "ENST00000643137.1",
"protein_id": "ENSP00000495331.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 341,
"cds_start": 392,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.392C>A",
"hgvs_p": "p.Ala131Glu",
"transcript": "ENST00000642923.1",
"protein_id": "ENSP00000494255.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 330,
"cds_start": 392,
"cds_end": null,
"cds_length": 995,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Ala52Glu",
"transcript": "NM_001282782.2",
"protein_id": "NP_001269711.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 307,
"cds_start": 155,
"cds_end": null,
"cds_length": 924,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ala75Glu",
"transcript": "ENST00000642562.1",
"protein_id": "ENSP00000494679.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 101,
"cds_start": 224,
"cds_end": null,
"cds_length": 307,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Ala166Glu",
"transcript": "XM_011530272.3",
"protein_id": "XP_011528574.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 370,
"cds_start": 497,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.497C>A",
"hgvs_p": "p.Ala166Glu",
"transcript": "XM_011530273.3",
"protein_id": "XP_011528575.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 355,
"cds_start": 497,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Ala52Glu",
"transcript": "XM_047441445.1",
"protein_id": "XP_047297401.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 262,
"cds_start": 155,
"cds_end": null,
"cds_length": 789,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 1284,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*90C>A",
"hgvs_p": null,
"transcript": "ENST00000381021.7",
"protein_id": "ENSP00000370409.3",
"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": 1830,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.457C>A",
"hgvs_p": null,
"transcript": "ENST00000485175.5",
"protein_id": null,
"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": 731,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.548C>A",
"hgvs_p": null,
"transcript": "ENST00000645026.1",
"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": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*90C>A",
"hgvs_p": null,
"transcript": "ENST00000381021.7",
"protein_id": "ENSP00000370409.3",
"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": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.118-41C>A",
"hgvs_p": null,
"transcript": "NM_001282783.2",
"protein_id": "NP_001269712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.118-41C>A",
"hgvs_p": null,
"transcript": "NM_001282784.2",
"protein_id": "NP_001269713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*72-37C>A",
"hgvs_p": null,
"transcript": "ENST00000453630.5",
"protein_id": "ENSP00000398488.1",
"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": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.479-37C>A",
"hgvs_p": null,
"transcript": "ENST00000457572.5",
"protein_id": "ENSP00000407700.1",
"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": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.582-37C>A",
"hgvs_p": null,
"transcript": "ENST00000465378.6",
"protein_id": null,
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.576-37C>A",
"hgvs_p": null,
"transcript": "ENST00000486620.5",
"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": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.943,
"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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],
"inheritance_mode": "AR,Mitochondrial",
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],
"clinvar_disease": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}