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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: 21-14500647-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=14500647&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 14500647,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001395858.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Ile217Thr",
"transcript": "NM_022136.5",
"protein_id": "NP_071419.3",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 373,
"cds_start": 650,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400566.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022136.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Ile217Thr",
"transcript": "ENST00000400566.6",
"protein_id": "ENSP00000383411.2",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 373,
"cds_start": 650,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022136.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400566.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Ile285Thr",
"transcript": "ENST00000285670.7",
"protein_id": "ENSP00000285670.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 441,
"cds_start": 854,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285670.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "ENST00000619120.4",
"protein_id": "ENSP00000480850.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 304,
"cds_start": 443,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619120.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.146T>C",
"hgvs_p": "p.Ile49Thr",
"transcript": "ENST00000400564.5",
"protein_id": "ENSP00000383409.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 205,
"cds_start": 146,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400564.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1634T>C",
"hgvs_p": "p.Ile545Thr",
"transcript": "NM_001395858.1",
"protein_id": "NP_001382787.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 701,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395858.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Ile513Thr",
"transcript": "NM_001395857.1",
"protein_id": "NP_001382786.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 669,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395857.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1538T>C",
"hgvs_p": "p.Ile513Thr",
"transcript": "ENST00000647101.1",
"protein_id": "ENSP00000493867.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 669,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647101.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.854T>C",
"hgvs_p": "p.Ile285Thr",
"transcript": "NM_001256370.2",
"protein_id": "NP_001243299.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 441,
"cds_start": 854,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256370.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Ile228Thr",
"transcript": "ENST00000959353.1",
"protein_id": "ENSP00000629412.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 384,
"cds_start": 683,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959353.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.500T>C",
"hgvs_p": "p.Ile167Thr",
"transcript": "ENST00000871911.1",
"protein_id": "ENSP00000541970.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871911.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Ile148Thr",
"transcript": "NM_001286523.2",
"protein_id": "NP_001273452.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 304,
"cds_start": 443,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286523.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.596T>C",
"hgvs_p": "p.Ile199Thr",
"transcript": "XM_011529684.3",
"protein_id": "XP_011527986.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 355,
"cds_start": 596,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529684.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.500T>C",
"hgvs_p": "p.Ile167Thr",
"transcript": "XM_011529685.1",
"protein_id": "XP_011527987.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 323,
"cds_start": 500,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529685.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Ile217Thr",
"transcript": "XM_011529686.2",
"protein_id": "XP_011527988.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 309,
"cds_start": 650,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529686.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Ile149Thr",
"transcript": "XM_047440942.1",
"protein_id": "XP_047296898.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 305,
"cds_start": 446,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440942.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "n.1029T>C",
"hgvs_p": null,
"transcript": "ENST00000644288.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000644288.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124905053",
"gene_hgnc_id": null,
"hgvs_c": "n.339+22980A>G",
"hgvs_p": null,
"transcript": "XR_007067925.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067925.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "n.-41T>C",
"hgvs_p": null,
"transcript": "ENST00000463807.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463807.1"
}
],
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"dbsnp": "rs373185460",
"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": 0.7905018329620361,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.507,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9835,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": 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_001395858.1",
"gene_symbol": "SAMSN1",
"hgnc_id": 10528,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1634T>C",
"hgvs_p": "p.Ile545Thr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007067925.1",
"gene_symbol": "LOC124905053",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.339+22980A>G",
"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
}