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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: 14-77887182-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77887182&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77887182,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001366487.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_020421.4",
"protein_id": "NP_065154.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 515,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000238561.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020421.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000238561.10",
"protein_id": "ENSP00000238561.5",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 523,
"cds_start": 515,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020421.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238561.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000951873.1",
"protein_id": "ENSP00000621932.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 604,
"cds_start": 515,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951873.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_001366487.2",
"protein_id": "NP_001353416.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 580,
"cds_start": 515,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366487.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000951875.1",
"protein_id": "ENSP00000621934.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 580,
"cds_start": 515,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951875.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Met",
"transcript": "ENST00000936818.1",
"protein_id": "ENSP00000606877.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 514,
"cds_start": 488,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936818.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000936824.1",
"protein_id": "ENSP00000606883.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 508,
"cds_start": 515,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936824.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Thr147Met",
"transcript": "ENST00000936820.1",
"protein_id": "ENSP00000606879.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 498,
"cds_start": 440,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936820.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_001366485.2",
"protein_id": "NP_001353414.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 484,
"cds_start": 515,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366485.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000878182.1",
"protein_id": "ENSP00000548241.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 470,
"cds_start": 515,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878182.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_001366486.2",
"protein_id": "NP_001353415.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 457,
"cds_start": 515,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366486.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000878179.1",
"protein_id": "ENSP00000548238.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 457,
"cds_start": 515,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878179.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "NM_001142545.2",
"protein_id": "NP_001136017.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 455,
"cds_start": 311,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142545.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000341211.5",
"protein_id": "ENSP00000339663.5",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 455,
"cds_start": 311,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341211.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000936823.1",
"protein_id": "ENSP00000606882.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 431,
"cds_start": 515,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936823.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_001366488.2",
"protein_id": "NP_001353417.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 418,
"cds_start": 515,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366488.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000936815.1",
"protein_id": "ENSP00000606874.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 407,
"cds_start": 515,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936815.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000878180.1",
"protein_id": "ENSP00000548239.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 402,
"cds_start": 311,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878180.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.137C>T",
"hgvs_p": "p.Thr46Met",
"transcript": "NM_001366490.2",
"protein_id": "NP_001353419.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 397,
"cds_start": 137,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366490.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "ENST00000936816.1",
"protein_id": "ENSP00000606875.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 389,
"cds_start": 311,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936816.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000936821.1",
"protein_id": "ENSP00000606880.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 368,
"cds_start": 515,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936821.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000557501.5",
"protein_id": "ENSP00000451549.1",
"transcript_support_level": 3,
"aa_start": 172,
"aa_end": null,
"aa_length": 264,
"cds_start": 515,
"cds_end": null,
"cds_length": 797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557501.5"
},
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}