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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: 4-2742513-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2742513&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2742513,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024309.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_024309.4",
"protein_id": "NP_077285.3",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 429,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315423.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024309.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000315423.12",
"protein_id": "ENSP00000321203.7",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 429,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024309.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315423.12"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349Gln",
"transcript": "ENST00000892917.1",
"protein_id": "ENSP00000562976.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 433,
"cds_start": 1046,
"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": "ENST00000892917.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.1025G>A",
"hgvs_p": "p.Arg342Gln",
"transcript": "ENST00000892919.1",
"protein_id": "ENSP00000562978.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 426,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892919.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000892918.1",
"protein_id": "ENSP00000562977.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 422,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892918.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"transcript": "NM_001292016.2",
"protein_id": "NP_001278945.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 346,
"cds_start": 785,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292016.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Gln",
"transcript": "ENST00000503235.1",
"protein_id": "ENSP00000426314.1",
"transcript_support_level": 3,
"aa_start": 262,
"aa_end": null,
"aa_length": 346,
"cds_start": 785,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503235.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238Gln",
"transcript": "NM_001161527.2",
"protein_id": "NP_001154999.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 322,
"cds_start": 713,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161527.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238Gln",
"transcript": "ENST00000510267.5",
"protein_id": "ENSP00000427613.1",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 322,
"cds_start": 713,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510267.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155Gln",
"transcript": "XM_047416149.1",
"protein_id": "XP_047272105.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 239,
"cds_start": 464,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416149.1"
},
{
"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": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "n.485G>A",
"hgvs_p": null,
"transcript": "ENST00000502256.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"hgvs_c": "n.597G>A",
"hgvs_p": null,
"transcript": "ENST00000505186.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505186.1"
}
],
"gene_symbol": "TNIP2",
"gene_hgnc_id": 19118,
"dbsnp": "rs144921267",
"frequency_reference_population": 0.000027147527,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.000028636,
"gnomad_genomes_af": 0.0000131427,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04902315139770508,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.084,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024309.4",
"gene_symbol": "TNIP2",
"hgnc_id": 19118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}