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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: 6-25971899-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25971899&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 25971899,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006355.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "NM_006355.5",
"protein_id": "NP_006346.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 465,
"cds_start": 538,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357085.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006355.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000357085.5",
"protein_id": "ENSP00000349596.2",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 465,
"cds_start": 538,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006355.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357085.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000859133.1",
"protein_id": "ENSP00000529192.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 465,
"cds_start": 538,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859133.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000859134.1",
"protein_id": "ENSP00000529193.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 465,
"cds_start": 538,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859134.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000859136.1",
"protein_id": "ENSP00000529195.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 465,
"cds_start": 538,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859136.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000859139.1",
"protein_id": "ENSP00000529198.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 465,
"cds_start": 538,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859139.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000859140.1",
"protein_id": "ENSP00000529199.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 465,
"cds_start": 538,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859140.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000859141.1",
"protein_id": "ENSP00000529200.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 465,
"cds_start": 538,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859141.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000961974.1",
"protein_id": "ENSP00000632033.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 464,
"cds_start": 538,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961974.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Trp",
"transcript": "ENST00000961975.1",
"protein_id": "ENSP00000632034.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 433,
"cds_start": 442,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961975.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "XM_047418080.1",
"protein_id": "XP_047274036.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 303,
"cds_start": 538,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418080.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.508-15C>T",
"hgvs_p": null,
"transcript": "ENST00000859138.1",
"protein_id": "ENSP00000529197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859138.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.508-24C>T",
"hgvs_p": null,
"transcript": "ENST00000859135.1",
"protein_id": "ENSP00000529194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": null,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859135.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.508-24C>T",
"hgvs_p": null,
"transcript": "ENST00000859137.1",
"protein_id": "ENSP00000529196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": null,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859137.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.508-24C>T",
"hgvs_p": null,
"transcript": "ENST00000934128.1",
"protein_id": "ENSP00000604187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": null,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934128.1"
}
],
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"dbsnp": "rs750792570",
"frequency_reference_population": 0.000025402695,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000225743,
"gnomad_genomes_af": 0.0000525762,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10857969522476196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.1111,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.345,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006355.5",
"gene_symbol": "TRIM38",
"hgnc_id": 10059,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp"
}
],
"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
}