← Back to variant description
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: 15-53615751-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=53615751&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 53615751,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182758.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "NM_182758.4",
"protein_id": "NP_877435.3",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360509.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182758.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "ENST00000360509.10",
"protein_id": "ENSP00000353699.5",
"transcript_support_level": 1,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182758.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360509.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "ENST00000396328.5",
"protein_id": "ENSP00000379619.1",
"transcript_support_level": 1,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396328.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2485C>T",
"hgvs_p": "p.Leu829Phe",
"transcript": "ENST00000559418.5",
"protein_id": "ENSP00000452765.1",
"transcript_support_level": 5,
"aa_start": 829,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559418.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "ENST00000864448.1",
"protein_id": "ENSP00000534507.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864448.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "ENST00000864450.1",
"protein_id": "ENSP00000534509.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864450.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "ENST00000953085.1",
"protein_id": "ENSP00000623144.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953085.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "ENST00000953086.1",
"protein_id": "ENSP00000623145.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953086.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "ENST00000953087.1",
"protein_id": "ENSP00000623146.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953087.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2449C>T",
"hgvs_p": "p.Leu817Phe",
"transcript": "ENST00000864449.1",
"protein_id": "ENSP00000534508.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2449,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864449.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2446C>T",
"hgvs_p": "p.Leu816Phe",
"transcript": "ENST00000557913.5",
"protein_id": "ENSP00000453378.1",
"transcript_support_level": 5,
"aa_start": 816,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2446,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557913.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2437C>T",
"hgvs_p": "p.Leu813Phe",
"transcript": "ENST00000953083.1",
"protein_id": "ENSP00000623142.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2437,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953083.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2437C>T",
"hgvs_p": "p.Leu813Phe",
"transcript": "ENST00000953084.1",
"protein_id": "ENSP00000623143.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2437,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953084.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Leu779Phe",
"transcript": "ENST00000864447.1",
"protein_id": "ENSP00000534506.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2335,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864447.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.Leu773Phe",
"transcript": "ENST00000929049.1",
"protein_id": "ENSP00000599108.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2317,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929049.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "XM_017022061.2",
"protein_id": "XP_016877550.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022061.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "XM_047432342.1",
"protein_id": "XP_047288298.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432342.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "XM_047432343.1",
"protein_id": "XP_047288299.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432343.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe",
"transcript": "XM_047432344.1",
"protein_id": "XP_047288300.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432344.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2437C>T",
"hgvs_p": "p.Leu813Phe",
"transcript": "XM_011521436.3",
"protein_id": "XP_011519738.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2437,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521436.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Leu779Phe",
"transcript": "XM_047432345.1",
"protein_id": "XP_047288301.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2335,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "n.2695C>T",
"hgvs_p": null,
"transcript": "NR_102334.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_102334.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.*130C>T",
"hgvs_p": null,
"transcript": "ENST00000560036.1",
"protein_id": "ENSP00000453813.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": null,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560036.1"
}
],
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"dbsnp": "rs17730281",
"frequency_reference_population": 0.23261715,
"hom_count_reference_population": 46614,
"allele_count_reference_population": 375231,
"gnomad_exomes_af": 0.233933,
"gnomad_genomes_af": 0.219959,
"gnomad_exomes_ac": 341825,
"gnomad_genomes_ac": 33406,
"gnomad_exomes_homalt": 42535,
"gnomad_genomes_homalt": 4079,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003987491130828857,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.528,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3382,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.072,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_182758.4",
"gene_symbol": "WDR72",
"hgnc_id": 26790,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2455C>T",
"hgvs_p": "p.Leu819Phe"
}
],
"clinvar_disease": " Recessive,Amelogenesis Imperfecta,Amelogenesis imperfecta hypomaturation type 2A3,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|Amelogenesis Imperfecta, Recessive|Amelogenesis imperfecta hypomaturation type 2A3|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}