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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: 1-243489095-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243489095&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 243489095,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001350248.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.2067G>T",
"hgvs_p": "p.Leu689Leu",
"transcript": "NM_006642.5",
"protein_id": "NP_006633.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 713,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366541.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006642.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.2067G>T",
"hgvs_p": "p.Leu689Leu",
"transcript": "ENST00000366541.8",
"protein_id": "ENSP00000355499.3",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 713,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006642.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366541.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1170G>T",
"hgvs_p": "p.Leu390Leu",
"transcript": "ENST00000435549.1",
"protein_id": "ENSP00000410200.1",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 414,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435549.1"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.*7-645C>A",
"hgvs_p": null,
"transcript": "ENST00000336199.9",
"protein_id": "ENSP00000336943.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"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": "ENST00000336199.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.2163G>T",
"hgvs_p": "p.Leu721Leu",
"transcript": "NM_001350248.2",
"protein_id": "NP_001337177.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 745,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350248.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.2163G>T",
"hgvs_p": "p.Leu721Leu",
"transcript": "ENST00000884080.1",
"protein_id": "ENSP00000554139.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 745,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884080.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1974G>T",
"hgvs_p": "p.Leu658Leu",
"transcript": "ENST00000951623.1",
"protein_id": "ENSP00000621682.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 682,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951623.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1938G>T",
"hgvs_p": "p.Leu646Leu",
"transcript": "ENST00000884079.1",
"protein_id": "ENSP00000554138.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 670,
"cds_start": 1938,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884079.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1878G>T",
"hgvs_p": "p.Leu626Leu",
"transcript": "ENST00000951625.1",
"protein_id": "ENSP00000621684.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 650,
"cds_start": 1878,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951625.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1830G>T",
"hgvs_p": "p.Leu610Leu",
"transcript": "ENST00000926803.1",
"protein_id": "ENSP00000596862.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 634,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926803.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1773G>T",
"hgvs_p": "p.Leu591Leu",
"transcript": "NM_001350249.2",
"protein_id": "NP_001337178.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 615,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350249.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1749G>T",
"hgvs_p": "p.Leu583Leu",
"transcript": "ENST00000951624.1",
"protein_id": "ENSP00000621683.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 607,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951624.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1545G>T",
"hgvs_p": "p.Leu515Leu",
"transcript": "ENST00000884081.1",
"protein_id": "ENSP00000554140.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 539,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884081.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1164G>T",
"hgvs_p": "p.Leu388Leu",
"transcript": "NM_001350246.2",
"protein_id": "NP_001337175.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 412,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350246.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1164G>T",
"hgvs_p": "p.Leu388Leu",
"transcript": "NM_001350247.2",
"protein_id": "NP_001337176.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 412,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350247.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1164G>T",
"hgvs_p": "p.Leu388Leu",
"transcript": "NM_001350251.2",
"protein_id": "NP_001337180.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 412,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350251.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "c.1140G>T",
"hgvs_p": "p.Leu380Leu",
"transcript": "ENST00000884082.1",
"protein_id": "ENSP00000554141.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 404,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884082.1"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKT3",
"gene_hgnc_id": 393,
"hgvs_c": "c.*7-645C>A",
"hgvs_p": null,
"transcript": "NM_181690.2",
"protein_id": "NP_859029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"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": "NM_181690.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"hgvs_c": "n.146G>T",
"hgvs_p": null,
"transcript": "ENST00000497459.1",
"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": "pseudogene",
"feature": "ENST00000497459.1"
}
],
"gene_symbol": "SDCCAG8",
"gene_hgnc_id": 10671,
"dbsnp": "rs191821211",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.628,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001350248.2",
"gene_symbol": "SDCCAG8",
"hgnc_id": 10671,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2163G>T",
"hgvs_p": "p.Leu721Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181690.2",
"gene_symbol": "AKT3",
"hgnc_id": 393,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*7-645C>A",
"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
}