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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: 17-4887618-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4887618&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4887618,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153827.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "NM_153827.5",
"protein_id": "NP_722549.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1332,
"cds_start": 1058,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": "ENST00000355280.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "ENST00000355280.11",
"protein_id": "ENSP00000347427.6",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 1332,
"cds_start": 1058,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": "NM_153827.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "ENST00000453408.7",
"protein_id": "ENSP00000406487.3",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 1312,
"cds_start": 1058,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "ENST00000347992.11",
"protein_id": "ENSP00000269296.7",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 1303,
"cds_start": 1058,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 4863,
"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": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "n.*838G>A",
"hgvs_p": null,
"transcript": "ENST00000574453.5",
"protein_id": "ENSP00000461500.1",
"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": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "n.*838G>A",
"hgvs_p": null,
"transcript": "ENST00000574453.5",
"protein_id": "ENSP00000461500.1",
"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": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "NM_001024937.4",
"protein_id": "NP_001020108.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1312,
"cds_start": 1058,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "NM_170663.5",
"protein_id": "NP_733763.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1303,
"cds_start": 1058,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "NM_015716.5",
"protein_id": "NP_056531.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1295,
"cds_start": 1058,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298Gln",
"transcript": "NM_001321236.2",
"protein_id": "NP_001308165.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1240,
"cds_start": 893,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"transcript": "ENST00000664602.1",
"protein_id": "ENSP00000499378.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 552,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1661,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "XM_006721531.2",
"protein_id": "XP_006721594.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1361,
"cds_start": 1058,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "XM_006721532.2",
"protein_id": "XP_006721595.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1360,
"cds_start": 1058,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Gln",
"transcript": "XM_017024704.1",
"protein_id": "XP_016880193.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1358,
"cds_start": 1049,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Gln",
"transcript": "XM_047436165.1",
"protein_id": "XP_047292121.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1357,
"cds_start": 1049,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "XM_017024705.1",
"protein_id": "XP_016880194.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1341,
"cds_start": 1058,
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"cds_length": 4026,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "XM_047436166.1",
"protein_id": "XP_047292122.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1340,
"cds_start": 1058,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Gln",
"transcript": "XM_047436167.1",
"protein_id": "XP_047292123.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1337,
"cds_start": 1049,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "XM_047436168.1",
"protein_id": "XP_047292124.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1331,
"cds_start": 1058,
"cds_end": null,
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"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Gln",
"transcript": "XM_011523906.1",
"protein_id": "XP_011522208.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1329,
"cds_start": 1049,
"cds_end": null,
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"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Gln",
"transcript": "XM_047436169.1",
"protein_id": "XP_047292125.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1328,
"cds_start": 1049,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "XM_006721536.2",
"protein_id": "XP_006721599.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1324,
"cds_start": 1058,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MINK1",
"gene_hgnc_id": 17565,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}