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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: 12-45927731-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=45927731&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 45927731,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000369367.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1970T>A",
"hgvs_p": "p.Phe657Tyr",
"transcript": "NM_004719.3",
"protein_id": "NP_004710.2",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1970,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 7552,
"mane_select": "ENST00000369367.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1970T>A",
"hgvs_p": "p.Phe657Tyr",
"transcript": "ENST00000369367.8",
"protein_id": "ENSP00000358374.3",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1970,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 7552,
"mane_select": "NM_004719.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1394T>A",
"hgvs_p": "p.Phe465Tyr",
"transcript": "ENST00000549162.5",
"protein_id": "ENSP00000448864.1",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1394,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1025T>A",
"hgvs_p": "p.Phe342Tyr",
"transcript": "ENST00000465950.5",
"protein_id": "ENSP00000449812.1",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1025,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.2162T>A",
"hgvs_p": "p.Phe721Tyr",
"transcript": "XM_005269230.3",
"protein_id": "XP_005269287.3",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1527,
"cds_start": 2162,
"cds_end": null,
"cds_length": 4584,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 7505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.2162T>A",
"hgvs_p": "p.Phe721Tyr",
"transcript": "XM_047429878.1",
"protein_id": "XP_047285834.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1490,
"cds_start": 2162,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.2018T>A",
"hgvs_p": "p.Phe673Tyr",
"transcript": "XM_011538984.3",
"protein_id": "XP_011537286.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 1479,
"cds_start": 2018,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 3758,
"cdna_end": null,
"cdna_length": 9097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1970T>A",
"hgvs_p": "p.Phe657Tyr",
"transcript": "XM_047429879.1",
"protein_id": "XP_047285835.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1970,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 7620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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.2162T>A",
"hgvs_p": "p.Phe721Tyr",
"transcript": "XM_047429880.1",
"protein_id": "XP_047285836.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2162,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.2018T>A",
"hgvs_p": "p.Phe673Tyr",
"transcript": "XM_047429881.1",
"protein_id": "XP_047285837.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 1442,
"cds_start": 2018,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 3758,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1970T>A",
"hgvs_p": "p.Phe657Tyr",
"transcript": "XM_047429882.1",
"protein_id": "XP_047285838.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 1426,
"cds_start": 1970,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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.2162T>A",
"hgvs_p": "p.Phe721Tyr",
"transcript": "XM_047429883.1",
"protein_id": "XP_047285839.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2162,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1814T>A",
"hgvs_p": "p.Phe605Tyr",
"transcript": "XM_024449275.2",
"protein_id": "XP_024305043.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 1411,
"cds_start": 1814,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 7261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "c.1394T>A",
"hgvs_p": "p.Phe465Tyr",
"transcript": "XM_047429884.1",
"protein_id": "XP_047285840.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1394,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 9528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"hgvs_c": "n.1790T>A",
"hgvs_p": null,
"transcript": "ENST00000547018.5",
"protein_id": "ENSP00000446746.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCAF11",
"gene_hgnc_id": 10784,
"dbsnp": "rs7315731",
"frequency_reference_population": 0.47445574,
"hom_count_reference_population": 186367,
"allele_count_reference_population": 763795,
"gnomad_exomes_af": 0.482947,
"gnomad_genomes_af": 0.393005,
"gnomad_exomes_ac": 704063,
"gnomad_genomes_ac": 59732,
"gnomad_exomes_homalt": 172838,
"gnomad_genomes_homalt": 13529,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00007763106259517372,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0739,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.006,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000369367.8",
"gene_symbol": "SCAF11",
"hgnc_id": 10784,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1970T>A",
"hgvs_p": "p.Phe657Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}