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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: 1-32679679-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32679679&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32679679,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005610.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.1252G>T",
"hgvs_p": "p.Val418Leu",
"transcript": "NM_005610.3",
"protein_id": "NP_005601.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 425,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 7883,
"mane_select": "ENST00000373493.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005610.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.1252G>T",
"hgvs_p": "p.Val418Leu",
"transcript": "ENST00000373493.10",
"protein_id": "ENSP00000362592.4",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 425,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 7883,
"mane_select": "NM_005610.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373493.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.1249G>T",
"hgvs_p": "p.Val417Leu",
"transcript": "ENST00000414241.7",
"protein_id": "ENSP00000398242.3",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 424,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414241.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.471G>T",
"hgvs_p": "p.Ala157Ala",
"transcript": "ENST00000482190.1",
"protein_id": "ENSP00000436565.1",
"transcript_support_level": 3,
"aa_start": 157,
"aa_end": null,
"aa_length": 167,
"cds_start": 471,
"cds_end": null,
"cds_length": 504,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482190.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.1213-847G>T",
"hgvs_p": null,
"transcript": "ENST00000373485.5",
"protein_id": "ENSP00000362584.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": null,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373485.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.1249G>T",
"hgvs_p": "p.Val417Leu",
"transcript": "NM_001135255.2",
"protein_id": "NP_001128727.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 424,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135255.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"transcript": "NM_001135256.2",
"protein_id": "NP_001128728.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 390,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 7845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135256.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"transcript": "ENST00000458695.6",
"protein_id": "ENSP00000396057.2",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 390,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458695.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "c.651G>T",
"hgvs_p": "p.Ala217Ala",
"transcript": "ENST00000463378.5",
"protein_id": "ENSP00000433805.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 261,
"cds_start": 651,
"cds_end": null,
"cds_length": 786,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463378.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "n.517G>T",
"hgvs_p": null,
"transcript": "ENST00000460669.5",
"protein_id": "ENSP00000432298.1",
"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": 783,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460669.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "n.*668G>T",
"hgvs_p": null,
"transcript": "ENST00000492348.6",
"protein_id": "ENSP00000436663.1",
"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": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492348.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"hgvs_c": "n.*668G>T",
"hgvs_p": null,
"transcript": "ENST00000492348.6",
"protein_id": "ENSP00000436663.1",
"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": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492348.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.*2171C>A",
"hgvs_p": null,
"transcript": "NM_030786.3",
"protein_id": "NP_110413.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": "ENST00000409190.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030786.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.*2171C>A",
"hgvs_p": null,
"transcript": "ENST00000409190.8",
"protein_id": "ENSP00000386439.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": "NM_030786.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409190.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.*2109C>A",
"hgvs_p": null,
"transcript": "NM_001161708.2",
"protein_id": "NP_001155180.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161708.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.*2171C>A",
"hgvs_p": null,
"transcript": "XM_047431210.1",
"protein_id": "XP_047287166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": null,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.*2171C>A",
"hgvs_p": null,
"transcript": "XM_047431221.1",
"protein_id": "XP_047287177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": null,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNC",
"gene_hgnc_id": 28897,
"hgvs_c": "c.*2171C>A",
"hgvs_p": null,
"transcript": "XM_047431230.1",
"protein_id": "XP_047287186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": null,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431230.1"
}
],
"gene_symbol": "RBBP4",
"gene_hgnc_id": 9887,
"dbsnp": "rs761532773",
"frequency_reference_population": 0.0000013750978,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013751,
"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": 0.11036691069602966,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.153,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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_005610.3",
"gene_symbol": "RBBP4",
"hgnc_id": 9887,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1252G>T",
"hgvs_p": "p.Val418Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030786.3",
"gene_symbol": "SYNC",
"hgnc_id": 28897,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2171C>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
}