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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: 22-38219529-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38219529&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38219529,
"ref": "A",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000361906.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "n.*3046T>A",
"hgvs_p": null,
"transcript": "ENST00000436674.5",
"protein_id": "ENSP00000413085.1",
"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": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "NM_012264.5",
"protein_id": "NP_036396.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": "ENST00000361906.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "ENST00000361906.8",
"protein_id": "ENSP00000355210.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": "NM_012264.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "ENST00000361684.8",
"protein_id": "ENSP00000354441.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "n.*3046T>A",
"hgvs_p": null,
"transcript": "ENST00000436674.5",
"protein_id": "ENSP00000413085.1",
"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": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "n.4575T>A",
"hgvs_p": null,
"transcript": "ENST00000633056.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "NM_001195071.1",
"protein_id": "NP_001182000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "NM_001195072.2",
"protein_id": "NP_001182001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "XM_017028754.2",
"protein_id": "XP_016884243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": -4,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "XM_011530112.3",
"protein_id": "XP_011528414.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
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"cds_length": 1344,
"cdna_start": null,
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"cdna_length": 3682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "XM_017028755.2",
"protein_id": "XP_016884244.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TMEM184B",
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"hgvs_c": "c.*1940T>A",
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"transcript": "XM_011530113.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "XM_011530114.2",
"protein_id": "XP_011528416.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TMEM184B",
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"hgvs_c": "c.*1940T>A",
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"transcript": "XM_047441315.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TMEM184B",
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"hgvs_c": "c.*1940T>A",
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"transcript": "XM_017028756.2",
"protein_id": "XP_016884245.1",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
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"protein_id": "XP_011528417.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TMEM184B",
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"hgvs_c": "c.*1940T>A",
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"transcript": "XM_017028757.2",
"protein_id": "XP_016884246.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.*1940T>A",
"hgvs_p": null,
"transcript": "XM_047441317.1",
"protein_id": "XP_047297273.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TMEM184B",
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"hgvs_c": "c.*1940T>A",
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"transcript": "XM_047441318.1",
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},
{
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],
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"gene_symbol": "TMEM184B",
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},
{
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],
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"gene_symbol": "TMEM184B",
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"hgvs_c": "c.*1940T>A",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.1082-2815T>A",
"hgvs_p": null,
"transcript": "XM_047441316.1",
"protein_id": "XP_047297272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.983-2815T>A",
"hgvs_p": null,
"transcript": "XM_047441319.1",
"protein_id": "XP_047297275.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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}
],
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"dbsnp": "rs1059804",
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"gnomad_exomes_ac": 504785,
"gnomad_genomes_ac": 111950,
"gnomad_exomes_homalt": 152723,
"gnomad_genomes_homalt": 41825,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.079,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000361906.8",
"gene_symbol": "TMEM184B",
"hgnc_id": 1310,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1940T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}