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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: 9-114402801-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114402801&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114402801,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015404.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2677C>A",
"hgvs_p": "p.Arg893Ser",
"transcript": "NM_015404.4",
"protein_id": "NP_056219.3",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 907,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000362057.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2677C>A",
"hgvs_p": "p.Arg893Ser",
"transcript": "ENST00000362057.4",
"protein_id": "ENSP00000354623.3",
"transcript_support_level": 1,
"aa_start": 893,
"aa_end": null,
"aa_length": 907,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_015404.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Arg510Ser",
"transcript": "ENST00000265134.10",
"protein_id": "ENSP00000265134.6",
"transcript_support_level": 1,
"aa_start": 510,
"aa_end": null,
"aa_length": 524,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2674C>A",
"hgvs_p": "p.Arg892Ser",
"transcript": "NM_001173425.2",
"protein_id": "NP_001166896.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 906,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3346,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2467C>A",
"hgvs_p": "p.Arg823Ser",
"transcript": "ENST00000674036.9",
"protein_id": "ENSP00000501297.5",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 837,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1624C>A",
"hgvs_p": "p.Arg542Ser",
"transcript": "NM_001346890.1",
"protein_id": "NP_001333819.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 556,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Arg510Ser",
"transcript": "NM_001083885.3",
"protein_id": "NP_001077354.2",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 524,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.1021C>A",
"hgvs_p": "p.Arg341Ser",
"transcript": "ENST00000699485.1",
"protein_id": "ENSP00000514396.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 355,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2710C>A",
"hgvs_p": "p.Arg904Ser",
"transcript": "XM_011518485.2",
"protein_id": "XP_011516787.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 918,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 3239,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2707C>A",
"hgvs_p": "p.Arg903Ser",
"transcript": "XM_011518486.3",
"protein_id": "XP_011516788.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 917,
"cds_start": 2707,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 3379,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2677C>A",
"hgvs_p": "p.Arg893Ser",
"transcript": "XM_047423161.1",
"protein_id": "XP_047279117.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 907,
"cds_start": 2677,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3206,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2674C>A",
"hgvs_p": "p.Arg892Ser",
"transcript": "XM_047423163.1",
"protein_id": "XP_047279119.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 906,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3203,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2584C>A",
"hgvs_p": "p.Arg862Ser",
"transcript": "XM_011518487.3",
"protein_id": "XP_011516789.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 876,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 3256,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2551C>A",
"hgvs_p": "p.Arg851Ser",
"transcript": "XM_047423164.1",
"protein_id": "XP_047279120.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 865,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 3080,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2548C>A",
"hgvs_p": "p.Arg850Ser",
"transcript": "XM_047423165.1",
"protein_id": "XP_047279121.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 864,
"cds_start": 2548,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2467C>A",
"hgvs_p": "p.Arg823Ser",
"transcript": "XM_047423166.1",
"protein_id": "XP_047279122.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 837,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2464C>A",
"hgvs_p": "p.Arg822Ser",
"transcript": "XM_047423167.1",
"protein_id": "XP_047279123.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 836,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 3136,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2341C>A",
"hgvs_p": "p.Arg781Ser",
"transcript": "XM_047423168.1",
"protein_id": "XP_047279124.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 795,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2870,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Arg780Ser",
"transcript": "XM_047423169.1",
"protein_id": "XP_047279125.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 794,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 3010,
"cdna_end": null,
"cdna_length": 3731,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "n.2558C>A",
"hgvs_p": null,
"transcript": "ENST00000674048.1",
"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": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"dbsnp": "rs138323921",
"frequency_reference_population": 0.0000013682361,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136824,
"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": 0.0506245493888855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.2861,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.975,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015404.4",
"gene_symbol": "WHRN",
"hgnc_id": 16361,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2677C>A",
"hgvs_p": "p.Arg893Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}