← Back to variant description
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: 5-176968617-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176968617&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 176968617,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000511320.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "NM_001199298.2",
"protein_id": "NP_001186227.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 719,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": "ENST00000511320.6",
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "ENST00000511320.6",
"protein_id": "ENSP00000421926.1",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 719,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": "NM_001199298.2",
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "ENST00000377227.8",
"protein_id": "ENSP00000366434.4",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 719,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.702+436T>C",
"hgvs_p": null,
"transcript": "ENST00000506128.5",
"protein_id": "ENSP00000427480.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.90+984T>C",
"hgvs_p": null,
"transcript": "ENST00000510698.2",
"protein_id": "ENSP00000423717.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1334,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "NM_001199297.2",
"protein_id": "NP_001186226.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 719,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2815,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "NM_016290.4",
"protein_id": "NP_057374.3",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 719,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2604,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "XM_005265930.3",
"protein_id": "XP_005265987.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 719,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 2701,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "XM_006714871.3",
"protein_id": "XP_006714934.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 719,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2584,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Ser281Pro",
"transcript": "XM_047417303.1",
"protein_id": "XP_047273259.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 620,
"cds_start": 841,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2293,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "XM_011534570.2",
"protein_id": "XP_011532872.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 537,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1782,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.229T>C",
"hgvs_p": "p.Ser77Pro",
"transcript": "XM_047417304.1",
"protein_id": "XP_047273260.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 416,
"cds_start": 229,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1556,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.273T>C",
"hgvs_p": null,
"transcript": "ENST00000503273.1",
"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": 955,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.*641T>C",
"hgvs_p": null,
"transcript": "ENST00000512031.5",
"protein_id": "ENSP00000425566.1",
"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": 2467,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.1291T>C",
"hgvs_p": null,
"transcript": "NR_146149.1",
"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": 2672,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.1291T>C",
"hgvs_p": null,
"transcript": "NR_146150.1",
"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": 2598,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.*641T>C",
"hgvs_p": null,
"transcript": "ENST00000512031.5",
"protein_id": "ENSP00000425566.1",
"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": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.702+436T>C",
"hgvs_p": null,
"transcript": "NM_001317961.1",
"protein_id": "NP_001304890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.357+2125T>C",
"hgvs_p": null,
"transcript": "XM_005265932.4",
"protein_id": "XP_005265989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.357+2125T>C",
"hgvs_p": null,
"transcript": "XM_005265933.3",
"protein_id": "XP_005265990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.357+2125T>C",
"hgvs_p": null,
"transcript": "XM_017009576.2",
"protein_id": "XP_016865065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.357+2125T>C",
"hgvs_p": null,
"transcript": "XM_017009577.2",
"protein_id": "XP_016865066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"dbsnp": "rs150697112",
"frequency_reference_population": 0.0016360892,
"hom_count_reference_population": 7,
"allele_count_reference_population": 2640,
"gnomad_exomes_af": 0.00167781,
"gnomad_genomes_af": 0.0012354,
"gnomad_exomes_ac": 2452,
"gnomad_genomes_ac": 188,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003105670213699341,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.0454,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.918,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000511320.6",
"gene_symbol": "UIMC1",
"hgnc_id": 30298,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}