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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: 4-169555747-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=169555747&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 169555747,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000507142.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "NM_001199397.3",
"protein_id": "NP_001186326.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "ENST00000507142.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "ENST00000507142.6",
"protein_id": "ENSP00000424757.2",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "NM_001199397.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "ENST00000439128.6",
"protein_id": "ENSP00000408020.2",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 5653,
"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": 35,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1430+185C>T",
"hgvs_p": null,
"transcript": "ENST00000511633.5",
"protein_id": "ENSP00000423332.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": -4,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5536,
"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": 33,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1430+185C>T",
"hgvs_p": null,
"transcript": "ENST00000510533.5",
"protein_id": "ENSP00000427653.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5377,
"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": 33,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1355+185C>T",
"hgvs_p": null,
"transcript": "ENST00000512193.5",
"protein_id": "ENSP00000424938.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "NM_001374418.1",
"protein_id": "NP_001361347.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1286,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"transcript": "ENST00000687643.1",
"protein_id": "ENSP00000509309.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 1267,
"cds_start": 1562,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "NM_001374419.1",
"protein_id": "NP_001361348.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "NM_012224.4",
"protein_id": "NP_036356.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 6090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1484C>T",
"hgvs_p": "p.Ala495Val",
"transcript": "NM_001374420.1",
"protein_id": "NP_001361349.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Ala484Val",
"transcript": "ENST00000685111.1",
"protein_id": "ENSP00000508844.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1451,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 5923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "NM_001440620.1",
"protein_id": "NP_001427549.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1227,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 5997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "NM_001440621.1",
"protein_id": "NP_001427550.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ala470Val",
"transcript": "NM_001374421.1",
"protein_id": "NP_001361350.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 1125,
"cds_start": 1409,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 5613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ala470Val",
"transcript": "ENST00000686697.1",
"protein_id": "ENSP00000508689.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 1125,
"cds_start": 1409,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Ala305Val",
"transcript": "NM_001440624.1",
"protein_id": "NP_001427553.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1051,
"cds_start": 914,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "XM_047415734.1",
"protein_id": "XP_047271690.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1535,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Ala305Val",
"transcript": "XM_047415737.1",
"protein_id": "XP_047271693.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1079,
"cds_start": 914,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 5346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Ala305Val",
"transcript": "XM_047415738.1",
"protein_id": "XP_047271694.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1079,
"cds_start": 914,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "XM_047415740.1",
"protein_id": "XP_047271696.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 722,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val",
"transcript": "XM_011532005.3",
"protein_id": "XP_011530307.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 715,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 3530,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "n.1267C>T",
"hgvs_p": null,
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"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000507142.6",
"gene_symbol": "NEK1",
"hgnc_id": 7744,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Ala512Val"
}
],
"clinvar_disease": "NEK1-related disorder,Short-rib thoracic dysplasia 6 with or without polydactyly",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Short-rib thoracic dysplasia 6 with or without polydactyly|NEK1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}