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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: 4-8453518-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=8453518&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 8453518,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000389737.5",
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "NM_152544.3",
"protein_id": "NP_689757.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": "ENST00000389737.5",
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "ENST00000389737.5",
"protein_id": "ENSP00000374387.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": "NM_152544.3",
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.408+529G>A",
"hgvs_p": null,
"transcript": "ENST00000513449.6",
"protein_id": "ENSP00000424643.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1666,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251186",
"gene_hgnc_id": 58729,
"hgvs_c": "n.556C>T",
"hgvs_p": null,
"transcript": "ENST00000515186.1",
"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": 664,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.408+529G>A",
"hgvs_p": null,
"transcript": "NM_001350233.2",
"protein_id": "NP_001337162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2845,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_047449678.1",
"protein_id": "XP_047305634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6120,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_011513406.3",
"protein_id": "XP_011511708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3494,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_011513407.3",
"protein_id": "XP_011511709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3116,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_047449679.1",
"protein_id": "XP_047305635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5380,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_047449680.1",
"protein_id": "XP_047305636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5079,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_047449681.1",
"protein_id": "XP_047305637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6207,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_047449682.1",
"protein_id": "XP_047305638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
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"cds_length": 2058,
"cdna_start": null,
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"cdna_length": 4403,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_047449683.1",
"protein_id": "XP_047305639.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 685,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4918,
"mane_select": null,
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"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_047449684.1",
"protein_id": "XP_047305640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_047449685.1",
"protein_id": "XP_047305641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5626,
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.444+529G>A",
"hgvs_p": null,
"transcript": "XM_011513408.2",
"protein_id": "XP_011511710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 528,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.408+529G>A",
"hgvs_p": null,
"transcript": "XM_011513409.4",
"protein_id": "XP_011511711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3023,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_011513410.3",
"protein_id": "XP_011511712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null,
"transcript": "XM_017007811.2",
"protein_id": "XP_016863300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": -4,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
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"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"dbsnp": "rs2631753",
"frequency_reference_population": 0.46471676,
"hom_count_reference_population": 16979,
"allele_count_reference_population": 70847,
"gnomad_exomes_af": 0.398058,
"gnomad_genomes_af": 0.464897,
"gnomad_exomes_ac": 164,
"gnomad_genomes_ac": 70683,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 16945,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.516,
"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": "ENST00000389737.5",
"gene_symbol": "TRMT44",
"hgnc_id": 26653,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1131+529G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000515186.1",
"gene_symbol": "ENSG00000251186",
"hgnc_id": 58729,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.556C>T",
"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
}