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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: 12-45924924-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=45924924&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 45924924,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004719.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3710C>T",
"hgvs_p": "p.Ala1237Val",
"transcript": "NM_004719.3",
"protein_id": "NP_004710.2",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3710,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369367.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004719.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3710C>T",
"hgvs_p": "p.Ala1237Val",
"transcript": "ENST00000369367.8",
"protein_id": "ENSP00000358374.3",
"transcript_support_level": 1,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3710,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004719.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369367.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3134C>T",
"hgvs_p": "p.Ala1045Val",
"transcript": "ENST00000549162.5",
"protein_id": "ENSP00000448864.1",
"transcript_support_level": 1,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549162.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.2765C>T",
"hgvs_p": "p.Ala922Val",
"transcript": "ENST00000465950.5",
"protein_id": "ENSP00000449812.1",
"transcript_support_level": 1,
"aa_start": 922,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2765,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465950.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Ala410Val",
"transcript": "ENST00000943613.1",
"protein_id": "ENSP00000613672.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 636,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943613.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Ala400Val",
"transcript": "ENST00000943612.1",
"protein_id": "ENSP00000613671.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 626,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943612.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Ala400Val",
"transcript": "ENST00000943614.1",
"protein_id": "ENSP00000613673.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 610,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943614.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Ala331Val",
"transcript": "ENST00000884498.1",
"protein_id": "ENSP00000554557.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 557,
"cds_start": 992,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884498.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Ala1301Val",
"transcript": "XM_005269230.3",
"protein_id": "XP_005269287.3",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1527,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269230.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Ala1301Val",
"transcript": "XM_047429878.1",
"protein_id": "XP_047285834.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1490,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429878.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3758C>T",
"hgvs_p": "p.Ala1253Val",
"transcript": "XM_011538984.3",
"protein_id": "XP_011537286.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1479,
"cds_start": 3758,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538984.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3710C>T",
"hgvs_p": "p.Ala1237Val",
"transcript": "XM_047429879.1",
"protein_id": "XP_047285835.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3710,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429879.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Ala1301Val",
"transcript": "XM_047429880.1",
"protein_id": "XP_047285836.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429880.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3758C>T",
"hgvs_p": "p.Ala1253Val",
"transcript": "XM_047429881.1",
"protein_id": "XP_047285837.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3758,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429881.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3710C>T",
"hgvs_p": "p.Ala1237Val",
"transcript": "XM_047429882.1",
"protein_id": "XP_047285838.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3710,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429882.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3902C>T",
"hgvs_p": "p.Ala1301Val",
"transcript": "XM_047429883.1",
"protein_id": "XP_047285839.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429883.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3554C>T",
"hgvs_p": "p.Ala1185Val",
"transcript": "XM_024449275.2",
"protein_id": "XP_024305043.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3554,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449275.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.3134C>T",
"hgvs_p": "p.Ala1045Val",
"transcript": "XM_047429884.1",
"protein_id": "XP_047285840.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.-137C>T",
"hgvs_p": null,
"transcript": "ENST00000550893.2",
"protein_id": "ENSP00000477742.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550893.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "n.-136C>T",
"hgvs_p": null,
"transcript": "ENST00000550629.1",
"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": "ENST00000550629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "n.*23C>T",
"hgvs_p": null,
"transcript": "ENST00000547950.1",
"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": "ENST00000547950.1"
}
],
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"dbsnp": "rs752583297",
"frequency_reference_population": 0.0000013681163,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26299089193344116,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.3162,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.506,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_004719.3",
"gene_symbol": "SCAF11",
"hgnc_id": 10784,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3710C>T",
"hgvs_p": "p.Ala1237Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}