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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: 12-108788506-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=108788506&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 108788506,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018984.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Gly878Arg",
"transcript": "NM_018984.4",
"protein_id": "NP_061857.3",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326495.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018984.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Gly878Arg",
"transcript": "ENST00000326495.10",
"protein_id": "ENSP00000315713.5",
"transcript_support_level": 1,
"aa_start": 878,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018984.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326495.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2563G>C",
"hgvs_p": "p.Gly855Arg",
"transcript": "ENST00000877978.1",
"protein_id": "ENSP00000548037.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877978.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2665G>C",
"hgvs_p": "p.Gly889Arg",
"transcript": "XM_011538497.2",
"protein_id": "XP_011536799.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2665,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538497.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Gly878Arg",
"transcript": "XM_005268984.5",
"protein_id": "XP_005269041.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268984.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2584G>C",
"hgvs_p": "p.Gly862Arg",
"transcript": "XM_017019491.3",
"protein_id": "XP_016874980.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019491.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2503G>C",
"hgvs_p": "p.Gly835Arg",
"transcript": "XM_047429021.1",
"protein_id": "XP_047284977.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2503,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429021.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2503G>C",
"hgvs_p": "p.Gly835Arg",
"transcript": "XM_047429022.1",
"protein_id": "XP_047284978.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2503,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429022.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2464G>C",
"hgvs_p": "p.Gly822Arg",
"transcript": "XM_011538499.2",
"protein_id": "XP_011536801.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 993,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538499.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2431G>C",
"hgvs_p": "p.Gly811Arg",
"transcript": "XM_047429023.1",
"protein_id": "XP_047284979.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 982,
"cds_start": 2431,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429023.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2392G>C",
"hgvs_p": "p.Gly798Arg",
"transcript": "XM_005268985.3",
"protein_id": "XP_005269042.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 969,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268985.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2392G>C",
"hgvs_p": "p.Gly798Arg",
"transcript": "XM_011538500.4",
"protein_id": "XP_011536802.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 969,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538500.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2392G>C",
"hgvs_p": "p.Gly798Arg",
"transcript": "XM_011538501.4",
"protein_id": "XP_011536803.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 969,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538501.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2383G>C",
"hgvs_p": "p.Gly795Arg",
"transcript": "XM_047429024.1",
"protein_id": "XP_047284980.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 966,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429024.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.2254G>C",
"hgvs_p": "p.Gly752Arg",
"transcript": "XM_047429025.1",
"protein_id": "XP_047284981.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 923,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429025.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Gly566Arg",
"transcript": "XM_047429026.1",
"protein_id": "XP_047284982.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 737,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "n.*1625G>C",
"hgvs_p": null,
"transcript": "ENST00000546433.5",
"protein_id": "ENSP00000447629.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000546433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"hgvs_c": "n.*1625G>C",
"hgvs_p": null,
"transcript": "ENST00000546433.5",
"protein_id": "ENSP00000447629.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000546433.5"
}
],
"gene_symbol": "SSH1",
"gene_hgnc_id": 30579,
"dbsnp": "rs367620838",
"frequency_reference_population": 0.0000035514693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000355147,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07956820726394653,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.093,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.62,
"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": 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_018984.4",
"gene_symbol": "SSH1",
"hgnc_id": 30579,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2632G>C",
"hgvs_p": "p.Gly878Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}