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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: 1-46558645-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46558645&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46558645,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001135553.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.1169G>A",
"hgvs_p": "p.Arg390His",
"transcript": "NM_001135553.4",
"protein_id": "NP_001129025.2",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 412,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "ENST00000371945.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1169G>A",
"hgvs_p": "p.Arg390His",
"transcript": "ENST00000371945.10",
"protein_id": "ENSP00000361013.5",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 412,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "NM_001135553.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1292G>A",
"hgvs_p": "p.Arg431His",
"transcript": "ENST00000371946.9",
"protein_id": "ENSP00000361014.5",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 453,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1492,
"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.1195G>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": "R",
"aa_alt": "H",
"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.1328G>A",
"hgvs_p": "p.Arg443His",
"transcript": "ENST00000649800.1",
"protein_id": "ENSP00000498083.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 465,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1292G>A",
"hgvs_p": "p.Arg431His",
"transcript": "NM_003684.7",
"protein_id": "NP_003675.3",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 453,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1205G>A",
"hgvs_p": "p.Arg402His",
"transcript": "ENST00000650508.1",
"protein_id": "ENSP00000498143.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 424,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "NM_001377337.1",
"protein_id": "NP_001364266.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 418,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "NM_001377338.1",
"protein_id": "NP_001364267.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 418,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1169G>A",
"hgvs_p": "p.Arg390His",
"transcript": "NM_001377373.1",
"protein_id": "NP_001364302.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 412,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.920G>A",
"hgvs_p": "p.Arg307His",
"transcript": "ENST00000341183.9",
"protein_id": "ENSP00000339573.6",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 329,
"cds_start": 920,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "XM_047433022.1",
"protein_id": "XP_047288978.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 427,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1205G>A",
"hgvs_p": "p.Arg402His",
"transcript": "XM_047433024.1",
"protein_id": "XP_047288980.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 424,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1205G>A",
"hgvs_p": "p.Arg402His",
"transcript": "XM_047433025.1",
"protein_id": "XP_047288981.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 424,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1205G>A",
"hgvs_p": "p.Arg402His",
"transcript": "XM_047433026.1",
"protein_id": "XP_047288982.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 424,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1187G>A",
"hgvs_p": "p.Arg396His",
"transcript": "XM_006711002.4",
"protein_id": "XP_006711065.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 418,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 8635,
"cdna_end": null,
"cdna_length": 9873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1169G>A",
"hgvs_p": "p.Arg390His",
"transcript": "XM_024450510.2",
"protein_id": "XP_024306278.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 412,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1169G>A",
"hgvs_p": "p.Arg390His",
"transcript": "XM_047433039.1",
"protein_id": "XP_047288995.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 412,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 9157,
"cdna_end": null,
"cdna_length": 10395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1169G>A",
"hgvs_p": "p.Arg390His",
"transcript": "XM_047433042.1",
"protein_id": "XP_047288998.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 412,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1560,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "XM_047433047.1",
"protein_id": "XP_047289003.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 369,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "XM_047433053.1",
"protein_id": "XP_047289009.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 369,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 8537,
"cdna_end": null,
"cdna_length": 9775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1040G>A",
"hgvs_p": "p.Arg347His",
"transcript": "XM_047433059.1",
"protein_id": "XP_047289015.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 369,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 9060,
"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.*730G>A",
"hgvs_p": null,
"transcript": "ENST00000528077.6",
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"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
}