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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: 9-97910041-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=97910041&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 97910041,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016481.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Met",
"transcript": "NM_016481.5",
"protein_id": "NP_057565.3",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 441,
"cds_start": 985,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": "ENST00000375119.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016481.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Met",
"transcript": "ENST00000375119.8",
"protein_id": "ENSP00000364260.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 441,
"cds_start": 985,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": "NM_016481.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375119.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Val183Met",
"transcript": "ENST00000375118.1",
"protein_id": "ENSP00000364259.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 295,
"cds_start": 547,
"cds_end": null,
"cds_length": 888,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375118.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Met",
"transcript": "NM_001371657.1",
"protein_id": "NP_001358586.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 441,
"cds_start": 985,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371657.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Met",
"transcript": "ENST00000864009.1",
"protein_id": "ENSP00000534068.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 441,
"cds_start": 985,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864009.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Met",
"transcript": "NM_001371658.1",
"protein_id": "NP_001358587.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 399,
"cds_start": 985,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371658.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Val255Met",
"transcript": "NM_001371659.1",
"protein_id": "NP_001358588.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 367,
"cds_start": 763,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371659.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Val183Met",
"transcript": "NM_001330725.2",
"protein_id": "NP_001317654.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 295,
"cds_start": 547,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330725.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Val183Met",
"transcript": "NM_001371660.1",
"protein_id": "NP_001358589.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 295,
"cds_start": 547,
"cds_end": null,
"cds_length": 888,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371660.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Val183Met",
"transcript": "NM_001371661.1",
"protein_id": "NP_001358590.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 295,
"cds_start": 547,
"cds_end": null,
"cds_length": 888,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371661.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Met",
"transcript": "XM_011518776.4",
"protein_id": "XP_011517078.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 374,
"cds_start": 985,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518776.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Met",
"transcript": "XM_047423465.1",
"protein_id": "XP_047279421.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 338,
"cds_start": 676,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.409+3360G>A",
"hgvs_p": null,
"transcript": "ENST00000864011.1",
"protein_id": "ENSP00000534069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "n.789G>A",
"hgvs_p": null,
"transcript": "ENST00000478126.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478126.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "n.985G>A",
"hgvs_p": null,
"transcript": "ENST00000718443.1",
"protein_id": "ENSP00000520829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5434,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000718443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"hgvs_c": "c.*605G>A",
"hgvs_p": null,
"transcript": "ENST00000375117.8",
"protein_id": "ENSP00000364258.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375117.8"
}
],
"gene_symbol": "TRMO",
"gene_hgnc_id": 30967,
"dbsnp": "rs752011184",
"frequency_reference_population": 0.000009316713,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000082316,
"gnomad_genomes_af": 0.0000197091,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5307269096374512,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.5549,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.36,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016481.5",
"gene_symbol": "TRMO",
"hgnc_id": 30967,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Val329Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}