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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: 2-24079596-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24079596&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 24079596,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004881.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.664T>A",
"hgvs_p": "p.Trp222Arg",
"transcript": "NM_004881.5",
"protein_id": "NP_004872.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 332,
"cds_start": 664,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": "ENST00000238721.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004881.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.664T>A",
"hgvs_p": "p.Trp222Arg",
"transcript": "ENST00000238721.9",
"protein_id": "ENSP00000238721.4",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 332,
"cds_start": 664,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": "NM_004881.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238721.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.664T>A",
"hgvs_p": "p.Trp222Arg",
"transcript": "ENST00000335934.8",
"protein_id": "ENSP00000337834.4",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 332,
"cds_start": 664,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335934.8"
},
{
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.619+1223T>A",
"hgvs_p": null,
"transcript": "ENST00000407482.5",
"protein_id": "ENSP00000384414.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407482.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "FAM228B",
"gene_hgnc_id": 24736,
"hgvs_c": "c.-289-1280A>T",
"hgvs_p": null,
"transcript": "ENST00000613899.4",
"protein_id": "ENSP00000479742.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613899.4"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM228B",
"gene_hgnc_id": 24736,
"hgvs_c": "n.91-1283A>T",
"hgvs_p": null,
"transcript": "ENST00000469867.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469867.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.664T>A",
"hgvs_p": "p.Trp222Arg",
"transcript": "NM_147184.4",
"protein_id": "NP_671713.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 332,
"cds_start": 664,
"cds_end": null,
"cds_length": 999,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147184.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.640T>A",
"hgvs_p": "p.Trp214Arg",
"transcript": "ENST00000861137.1",
"protein_id": "ENSP00000531196.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 324,
"cds_start": 640,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861137.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.625T>A",
"hgvs_p": "p.Trp209Arg",
"transcript": "ENST00000861138.1",
"protein_id": "ENSP00000531197.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 319,
"cds_start": 625,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861138.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.451T>A",
"hgvs_p": "p.Trp151Arg",
"transcript": "ENST00000923540.1",
"protein_id": "ENSP00000593599.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 261,
"cds_start": 451,
"cds_end": null,
"cds_length": 786,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923540.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.397T>A",
"hgvs_p": "p.Trp133Arg",
"transcript": "XM_024453249.2",
"protein_id": "XP_024309017.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 243,
"cds_start": 397,
"cds_end": null,
"cds_length": 732,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453249.2"
},
{
"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": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.619+1223T>A",
"hgvs_p": null,
"transcript": "NM_001206802.2",
"protein_id": "NP_001193731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206802.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "FAM228B",
"gene_hgnc_id": 24736,
"hgvs_c": "c.-289-1280A>T",
"hgvs_p": null,
"transcript": "NM_001291328.2",
"protein_id": "NP_001278257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291328.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "c.619+1223T>A",
"hgvs_p": null,
"transcript": "XM_006712150.3",
"protein_id": "XP_006712213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712150.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53I3",
"gene_hgnc_id": 19373,
"hgvs_c": "n.733T>A",
"hgvs_p": null,
"transcript": "ENST00000417886.1",
"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": 827,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000417886.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM228B",
"gene_hgnc_id": 24736,
"hgvs_c": "n.277+415A>T",
"hgvs_p": null,
"transcript": "ENST00000460686.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 357,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460686.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM228B",
"gene_hgnc_id": 24736,
"hgvs_c": "n.113-1280A>T",
"hgvs_p": null,
"transcript": "ENST00000461972.5",
"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": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461972.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "FAM228B",
"gene_hgnc_id": 24736,
"hgvs_c": "n.43-1280A>T",
"hgvs_p": null,
"transcript": "ENST00000486967.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486967.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "FAM228B",
"gene_hgnc_id": 24736,
"hgvs_c": "n.138-1283A>T",
"hgvs_p": null,
"transcript": "NR_111929.2",
"protein_id": null,
"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": 793,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_111929.2"
}
],
"gene_symbol": "TP53I3",
"gene_hgnc_id": 19373,
"dbsnp": "rs1043776561",
"frequency_reference_population": 0.000013010685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000123128,
"gnomad_genomes_af": 0.0000197156,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8214480876922607,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.468,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9254,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.269,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004881.5",
"gene_symbol": "TP53I3",
"hgnc_id": 19373,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.664T>A",
"hgvs_p": "p.Trp222Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001291328.2",
"gene_symbol": "FAM228B",
"hgnc_id": 24736,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-289-1280A>T",
"hgvs_p": null
}
],
"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
}