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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: 17-45264648-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45264648&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45264648,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003954.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "NM_003954.5",
"protein_id": "NP_003945.2",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344686.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003954.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "ENST00000344686.8",
"protein_id": "ENSP00000478552.1",
"transcript_support_level": 1,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003954.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344686.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "ENST00000376926.8",
"protein_id": "ENSP00000482657.1",
"transcript_support_level": 1,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376926.8"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.154-1602C>T",
"hgvs_p": null,
"transcript": "ENST00000585351.2",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000585351.2"
},
{
"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": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.264+2305C>T",
"hgvs_p": null,
"transcript": "ENST00000586450.6",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000586450.6"
},
{
"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": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.71-2465C>T",
"hgvs_p": null,
"transcript": "ENST00000590100.7",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000590100.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2850G>A",
"hgvs_p": "p.Glu950Glu",
"transcript": "ENST00000970424.1",
"protein_id": "ENSP00000640483.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 953,
"cds_start": 2850,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970424.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "ENST00000617331.3",
"protein_id": "ENSP00000480974.3",
"transcript_support_level": 5,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617331.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "ENST00000902452.1",
"protein_id": "ENSP00000572511.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902452.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "ENST00000902453.1",
"protein_id": "ENSP00000572512.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902453.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "ENST00000970425.1",
"protein_id": "ENSP00000640484.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970425.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "ENST00000970426.1",
"protein_id": "ENSP00000640485.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970426.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Glu943Glu",
"transcript": "ENST00000970423.1",
"protein_id": "ENSP00000640482.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 946,
"cds_start": 2829,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970423.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2217G>A",
"hgvs_p": "p.Glu739Glu",
"transcript": "ENST00000970422.1",
"protein_id": "ENSP00000640481.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 742,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970422.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.3039G>A",
"hgvs_p": "p.Glu1013Glu",
"transcript": "XM_047436997.1",
"protein_id": "XP_047292953.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1016,
"cds_start": 3039,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436997.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.3039G>A",
"hgvs_p": "p.Glu1013Glu",
"transcript": "XM_047436998.1",
"protein_id": "XP_047292954.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1016,
"cds_start": 3039,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436998.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2832G>A",
"hgvs_p": "p.Glu944Glu",
"transcript": "XM_011525441.3",
"protein_id": "XP_011523743.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 947,
"cds_start": 2832,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525441.3"
},
{
"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": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "n.1769G>A",
"hgvs_p": null,
"transcript": "ENST00000586644.2",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586644.2"
},
{
"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": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "n.1639G>A",
"hgvs_p": null,
"transcript": "ENST00000592267.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592267.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "n.*1085G>A",
"hgvs_p": null,
"transcript": "ENST00000680632.1",
"protein_id": "ENSP00000505027.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "n.*1085G>A",
"hgvs_p": null,
"transcript": "ENST00000680632.1",
"protein_id": "ENSP00000505027.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680632.1"
},
{
"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": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.135-2465C>T",
"hgvs_p": null,
"transcript": "ENST00000585346.5",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
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}
],
"clinvar_disease": "NIK deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "NIK deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}