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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: 14-22946641-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22946641&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 22946641,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001166269.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Ser326Pro",
"transcript": "NM_001166269.2",
"protein_id": "NP_001159741.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 976,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": "ENST00000541587.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Ser326Pro",
"transcript": "ENST00000541587.6",
"protein_id": "ENSP00000441026.1",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 976,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": "NM_001166269.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Ser326Pro",
"transcript": "ENST00000206474.11",
"protein_id": "ENSP00000206474.7",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 976,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Ser281Pro",
"transcript": "ENST00000342454.12",
"protein_id": "ENSP00000342776.8",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 318,
"cds_start": 841,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.604T>C",
"hgvs_p": "p.Ser202Pro",
"transcript": "ENST00000490506.5",
"protein_id": "ENSP00000452260.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 239,
"cds_start": 604,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259132",
"gene_hgnc_id": null,
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Ser155Pro",
"transcript": "ENST00000555074.1",
"protein_id": "ENSP00000450856.2",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 192,
"cds_start": 463,
"cds_end": null,
"cds_length": 579,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Ser326Pro",
"transcript": "NM_017815.3",
"protein_id": "NP_060285.2",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 976,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Ser281Pro",
"transcript": "NM_001166270.2",
"protein_id": "NP_001159742.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 318,
"cds_start": 841,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Ser281Pro",
"transcript": "ENST00000555367.5",
"protein_id": "ENSP00000452239.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 318,
"cds_start": 841,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Ser281Pro",
"transcript": "ENST00000555986.5",
"protein_id": "ENSP00000451018.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 318,
"cds_start": 841,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Ser200Pro",
"transcript": "ENST00000347758.6",
"protein_id": "ENSP00000343473.2",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 237,
"cds_start": 598,
"cds_end": null,
"cds_length": 714,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1428,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.*143T>C",
"hgvs_p": null,
"transcript": "ENST00000553859.5",
"protein_id": "ENSP00000450542.1",
"transcript_support_level": 3,
"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": 602,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.717T>C",
"hgvs_p": null,
"transcript": "ENST00000554446.5",
"protein_id": null,
"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": 1129,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.771T>C",
"hgvs_p": null,
"transcript": "ENST00000556421.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"hgvs_c": "n.*143T>C",
"hgvs_p": null,
"transcript": "ENST00000553859.5",
"protein_id": "ENSP00000450542.1",
"transcript_support_level": 3,
"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": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.159-8489A>G",
"hgvs_p": null,
"transcript": "ENST00000548322.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.195-7690A>G",
"hgvs_p": null,
"transcript": "ENST00000548819.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.147-7690A>G",
"hgvs_p": null,
"transcript": "ENST00000668190.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.191-7690A>G",
"hgvs_p": null,
"transcript": "ENST00000702357.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.195-998A>G",
"hgvs_p": null,
"transcript": "ENST00000723461.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PRMT5-DT",
"gene_hgnc_id": 55482,
"hgvs_c": "n.195-7690A>G",
"hgvs_p": null,
"transcript": "NR_110002.1",
"protein_id": null,
"transcript_support_level": null,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HAUS4",
"gene_hgnc_id": 20163,
"dbsnp": "rs200660231",
"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": 0.1338728964328766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.5656,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.363,
"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_001166269.2",
"gene_symbol": "HAUS4",
"hgnc_id": 20163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Ser326Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555074.1",
"gene_symbol": "ENSG00000259132",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.463T>C",
"hgvs_p": "p.Ser155Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548322.2",
"gene_symbol": "PRMT5-DT",
"hgnc_id": 55482,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.159-8489A>G",
"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
}