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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: 17-45267712-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45267712&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45267712,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000344686.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2020C>T",
"hgvs_p": "p.His674Tyr",
"transcript": "NM_003954.5",
"protein_id": "NP_003945.2",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 947,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": "ENST00000344686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2020C>T",
"hgvs_p": "p.His674Tyr",
"transcript": "ENST00000344686.8",
"protein_id": "ENSP00000478552.1",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 947,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": "NM_003954.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2020C>T",
"hgvs_p": "p.His674Tyr",
"transcript": "ENST00000376926.8",
"protein_id": "ENSP00000482657.1",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 947,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2251,
"cdna_end": null,
"cdna_length": 4583,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.639-297G>A",
"hgvs_p": null,
"transcript": "ENST00000585351.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 961,
"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": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.481-297G>A",
"hgvs_p": null,
"transcript": "ENST00000586450.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2296,
"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": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.287-297G>A",
"hgvs_p": null,
"transcript": "ENST00000590100.7",
"protein_id": null,
"transcript_support_level": 1,
"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": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2020C>T",
"hgvs_p": "p.His674Tyr",
"transcript": "ENST00000617331.3",
"protein_id": "ENSP00000480974.3",
"transcript_support_level": 5,
"aa_start": 674,
"aa_end": null,
"aa_length": 947,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2020C>T",
"hgvs_p": "p.His674Tyr",
"transcript": "XM_047436997.1",
"protein_id": "XP_047292953.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2020C>T",
"hgvs_p": "p.His674Tyr",
"transcript": "XM_047436998.1",
"protein_id": "XP_047292954.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.2020C>T",
"hgvs_p": "p.His674Tyr",
"transcript": "XM_011525441.3",
"protein_id": "XP_011523743.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 947,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.2128G>A",
"hgvs_p": null,
"transcript": "ENST00000585780.5",
"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": 2475,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "n.957C>T",
"hgvs_p": null,
"transcript": "ENST00000586644.2",
"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": 3266,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "n.827C>T",
"hgvs_p": null,
"transcript": "ENST00000592267.1",
"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": 3152,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "n.*273C>T",
"hgvs_p": null,
"transcript": "ENST00000680632.1",
"protein_id": "ENSP00000505027.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "n.*273C>T",
"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": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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.426-297G>A",
"hgvs_p": null,
"transcript": "ENST00000588698.7",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.447-297G>A",
"hgvs_p": null,
"transcript": "ENST00000592422.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.370-297G>A",
"hgvs_p": null,
"transcript": "ENST00000655903.2",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2197,
"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.386-297G>A",
"hgvs_p": null,
"transcript": "ENST00000657572.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.807-297G>A",
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"transcript": "ENST00000663374.1",
"protein_id": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.201-297G>A",
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"transcript": "ENST00000782437.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAP3K14-AS1",
"gene_hgnc_id": 44359,
"hgvs_c": "n.452+256G>A",
"hgvs_p": null,
"transcript": "ENST00000782438.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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.539+256G>A",
"hgvs_p": null,
"transcript": "ENST00000782439.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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{
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"BS1",
"BS2"
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{
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "NIK deficiency|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}