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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: 5-140644233-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140644233&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140644233,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000394671.8",
"consequences": [
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1200+39C>T",
"hgvs_p": null,
"transcript": "NM_018502.5",
"protein_id": "NP_060972.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": "ENST00000394671.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1200+39C>T",
"hgvs_p": null,
"transcript": "ENST00000394671.8",
"protein_id": "ENSP00000378166.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": "NM_018502.5",
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1218+39C>T",
"hgvs_p": null,
"transcript": "ENST00000252100.6",
"protein_id": "ENSP00000252100.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "n.1361+39C>T",
"hgvs_p": null,
"transcript": "ENST00000510336.5",
"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": 1953,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1218+39C>T",
"hgvs_p": null,
"transcript": "NM_001300980.2",
"protein_id": "NP_001287909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1883,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.480+39C>T",
"hgvs_p": null,
"transcript": "NM_001300982.2",
"protein_id": "NP_001287911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NDUFA2",
"gene_hgnc_id": 7685,
"hgvs_c": "n.59+3023G>A",
"hgvs_p": null,
"transcript": "ENST00000510680.1",
"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": 576,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "n.605+45C>T",
"hgvs_p": null,
"transcript": "ENST00000515265.2",
"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": 1344,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1203+39C>T",
"hgvs_p": null,
"transcript": "XM_005268477.2",
"protein_id": "XP_005268534.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1868,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1218+39C>T",
"hgvs_p": null,
"transcript": "XM_017009618.2",
"protein_id": "XP_016865107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1200+39C>T",
"hgvs_p": null,
"transcript": "XM_047417353.1",
"protein_id": "XP_047273309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1697,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1218+39C>T",
"hgvs_p": null,
"transcript": "XM_011537663.3",
"protein_id": "XP_011535965.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.1200+39C>T",
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"transcript": "XM_047417354.1",
"protein_id": "XP_047273310.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.891+39C>T",
"hgvs_p": null,
"transcript": "XM_011537665.3",
"protein_id": "XP_011535967.1",
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},
{
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"intron_variant"
],
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"intron_rank": 10,
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"gene_symbol": "TMCO6",
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"hgvs_c": "c.891+39C>T",
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"transcript": "XM_024446124.2",
"protein_id": "XP_024301892.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.891+39C>T",
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"transcript": "XM_047417355.1",
"protein_id": "XP_047273311.1",
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},
{
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],
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"gene_symbol": "TMCO6",
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"hgvs_c": "c.891+39C>T",
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"transcript": "XM_047417356.1",
"protein_id": "XP_047273312.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
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"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.480+39C>T",
"hgvs_p": null,
"transcript": "XM_024446125.2",
"protein_id": "XP_024301893.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "c.480+39C>T",
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"transcript": "XM_047417357.1",
"protein_id": "XP_047273313.1",
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},
{
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"strand": true,
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],
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"hgvs_c": "n.*50C>T",
"hgvs_p": null,
"transcript": "ENST00000509605.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"feature": null
}
],
"gene_symbol": "TMCO6",
"gene_hgnc_id": 28814,
"dbsnp": "rs753279",
"frequency_reference_population": 0.43912086,
"hom_count_reference_population": 154937,
"allele_count_reference_population": 700014,
"gnomad_exomes_af": 0.44184,
"gnomad_genomes_af": 0.41333,
"gnomad_exomes_ac": 637168,
"gnomad_genomes_ac": 62846,
"gnomad_exomes_homalt": 141562,
"gnomad_genomes_homalt": 13375,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.354,
"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": "ENST00000394671.8",
"gene_symbol": "TMCO6",
"hgnc_id": 28814,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1200+39C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000510680.1",
"gene_symbol": "NDUFA2",
"hgnc_id": 7685,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.59+3023G>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
}