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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: 1-46558612-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46558612&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46558612,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001135553.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "NM_001135553.4",
"protein_id": "NP_001129025.2",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 412,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "ENST00000371945.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "ENST00000371945.10",
"protein_id": "ENSP00000361013.5",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 412,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "NM_001135553.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Gly442Asp",
"transcript": "ENST00000371946.9",
"protein_id": "ENSP00000361014.5",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 453,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 2719,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.1228G>A",
"hgvs_p": null,
"transcript": "ENST00000342571.7",
"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": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Gly454Asp",
"transcript": "ENST00000649800.1",
"protein_id": "ENSP00000498083.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 465,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Gly442Asp",
"transcript": "NM_003684.7",
"protein_id": "NP_003675.3",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 453,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Gly413Asp",
"transcript": "ENST00000650508.1",
"protein_id": "ENSP00000498143.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 424,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Gly407Asp",
"transcript": "NM_001377337.1",
"protein_id": "NP_001364266.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 418,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Gly407Asp",
"transcript": "NM_001377338.1",
"protein_id": "NP_001364267.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 418,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "NM_001377373.1",
"protein_id": "NP_001364302.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 412,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Gly318Asp",
"transcript": "ENST00000341183.9",
"protein_id": "ENSP00000339573.6",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 329,
"cds_start": 953,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Gly416Asp",
"transcript": "XM_047433022.1",
"protein_id": "XP_047288978.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 427,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Gly413Asp",
"transcript": "XM_047433024.1",
"protein_id": "XP_047288980.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 424,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Gly413Asp",
"transcript": "XM_047433025.1",
"protein_id": "XP_047288981.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 424,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Gly413Asp",
"transcript": "XM_047433026.1",
"protein_id": "XP_047288982.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 424,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Gly407Asp",
"transcript": "XM_006711002.4",
"protein_id": "XP_006711065.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 418,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 8668,
"cdna_end": null,
"cdna_length": 9873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "XM_024450510.2",
"protein_id": "XP_024306278.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 412,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "XM_047433039.1",
"protein_id": "XP_047288995.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 412,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 9190,
"cdna_end": null,
"cdna_length": 10395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "XM_047433042.1",
"protein_id": "XP_047288998.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 412,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Gly358Asp",
"transcript": "XM_047433047.1",
"protein_id": "XP_047289003.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 369,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Gly358Asp",
"transcript": "XM_047433053.1",
"protein_id": "XP_047289009.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 369,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 8570,
"cdna_end": null,
"cdna_length": 9775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Gly358Asp",
"transcript": "XM_047433059.1",
"protein_id": "XP_047289015.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 369,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 9093,
"cdna_end": null,
"cdna_length": 10298,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKNK1",
"gene_hgnc_id": 7110,
"hgvs_c": "n.*763G>A",
"hgvs_p": null,
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"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}