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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: 17-4887782-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4887782&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4887782,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153827.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "NM_153827.5",
"protein_id": "NP_722549.2",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1332,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355280.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153827.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000355280.11",
"protein_id": "ENSP00000347427.6",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 1332,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153827.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355280.11"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000453408.7",
"protein_id": "ENSP00000406487.3",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 1312,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453408.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000347992.11",
"protein_id": "ENSP00000269296.7",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 1303,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347992.11"
},
{
"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.*1002G>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": 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": "ENST00000574453.5"
},
{
"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.*1002G>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": 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": "ENST00000574453.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000902228.1",
"protein_id": "ENSP00000572287.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1343,
"cds_start": 1222,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902228.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000902229.1",
"protein_id": "ENSP00000572288.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1342,
"cds_start": 1222,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902229.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000902223.1",
"protein_id": "ENSP00000572282.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1331,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902223.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1213G>A",
"hgvs_p": "p.Val405Met",
"transcript": "ENST00000961654.1",
"protein_id": "ENSP00000631713.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1328,
"cds_start": 1213,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961654.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "NM_001024937.4",
"protein_id": "NP_001020108.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1312,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024937.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1213G>A",
"hgvs_p": "p.Val405Met",
"transcript": "ENST00000961648.1",
"protein_id": "ENSP00000631707.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1213,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961648.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "NM_170663.5",
"protein_id": "NP_733763.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1303,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170663.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000902225.1",
"protein_id": "ENSP00000572284.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1302,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902225.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "NM_015716.5",
"protein_id": "NP_056531.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1295,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015716.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000902221.1",
"protein_id": "ENSP00000572280.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1295,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902221.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000902224.1",
"protein_id": "ENSP00000572283.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902224.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1213G>A",
"hgvs_p": "p.Val405Met",
"transcript": "ENST00000961652.1",
"protein_id": "ENSP00000631711.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1292,
"cds_start": 1213,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961652.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000961653.1",
"protein_id": "ENSP00000631712.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1292,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961653.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1213G>A",
"hgvs_p": "p.Val405Met",
"transcript": "ENST00000902222.1",
"protein_id": "ENSP00000572281.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1291,
"cds_start": 1213,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902222.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000961651.1",
"protein_id": "ENSP00000631710.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1285,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961651.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.1222G>A",
"hgvs_p": "p.Val408Met",
"transcript": "ENST00000961650.1",
"protein_id": "ENSP00000631709.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1222,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}