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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: 14-102208859-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102208859&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102208859,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001330228.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "NM_144574.4",
"protein_id": "NP_653175.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 569,
"cds_start": 689,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342702.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144574.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "ENST00000342702.8",
"protein_id": "ENSP00000341037.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 569,
"cds_start": 689,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144574.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342702.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "ENST00000335263.9",
"protein_id": "ENSP00000335434.5",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 581,
"cds_start": 689,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335263.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "ENST00000556807.1",
"protein_id": "ENSP00000450636.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 520,
"cds_start": 506,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556807.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "ENST00000556511.2",
"protein_id": "ENSP00000451633.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 508,
"cds_start": 506,
"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": "ENST00000556511.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.*258C>T",
"hgvs_p": null,
"transcript": "ENST00000299135.6",
"protein_id": "ENSP00000299135.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299135.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.526-3661C>T",
"hgvs_p": null,
"transcript": "ENST00000322340.9",
"protein_id": "ENSP00000314209.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": null,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322340.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Pro261Leu",
"transcript": "NM_001330228.3",
"protein_id": "NP_001317157.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 612,
"cds_start": 782,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330228.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Pro261Leu",
"transcript": "ENST00000424963.6",
"protein_id": "ENSP00000395793.3",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 612,
"cds_start": 782,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424963.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Pro261Leu",
"transcript": "NM_001242417.2",
"protein_id": "NP_001229346.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 600,
"cds_start": 782,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242417.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Pro261Leu",
"transcript": "ENST00000454394.2",
"protein_id": "ENSP00000406084.2",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 600,
"cds_start": 782,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454394.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "NM_001353656.2",
"protein_id": "NP_001340585.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 591,
"cds_start": 689,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353656.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "NM_001353657.2",
"protein_id": "NP_001340586.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 584,
"cds_start": 689,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353657.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "NM_001242418.2",
"protein_id": "NP_001229347.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 581,
"cds_start": 725,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242418.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "NM_181291.3",
"protein_id": "NP_851808.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 581,
"cds_start": 689,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181291.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "ENST00000879558.1",
"protein_id": "ENSP00000549617.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 581,
"cds_start": 725,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879558.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "NM_001353658.2",
"protein_id": "NP_001340587.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 531,
"cds_start": 539,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353658.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "NM_001242416.2",
"protein_id": "NP_001229345.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 520,
"cds_start": 506,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242416.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Pro181Leu",
"transcript": "NM_001353659.2",
"protein_id": "NP_001340588.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 520,
"cds_start": 542,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353659.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Pro181Leu",
"transcript": "ENST00000879557.1",
"protein_id": "ENSP00000549616.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 520,
"cds_start": 542,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879557.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "NM_001353660.2",
"protein_id": "NP_001340589.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 519,
"cds_start": 539,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353660.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR20",
"gene_hgnc_id": 19667,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "NM_181308.3",
"protein_id": "NP_851825.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 508,
"cds_start": 506,
"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": "NM_181308.3"
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}