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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: 1-149032053-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=149032053&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 149032053,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000695795.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7053G>A",
"hgvs_p": "p.Trp2351*",
"transcript": "ENST00000369356.8",
"protein_id": "ENSP00000358363.4",
"transcript_support_level": 1,
"aa_start": 2351,
"aa_end": null,
"aa_length": 2362,
"cds_start": 7053,
"cds_end": null,
"cds_length": 7089,
"cdna_start": 7344,
"cdna_end": null,
"cdna_length": 8307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.*68G>A",
"hgvs_p": null,
"transcript": "NM_001395426.1",
"protein_id": "NP_001382355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2412,
"cds_start": -4,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": "ENST00000695795.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.*68G>A",
"hgvs_p": null,
"transcript": "ENST00000695795.1",
"protein_id": "ENSP00000512175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2412,
"cds_start": -4,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": "NM_001395426.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.*68G>A",
"hgvs_p": null,
"transcript": "ENST00000369354.7",
"protein_id": "ENSP00000358360.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2346,
"cds_start": -4,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.*68G>A",
"hgvs_p": null,
"transcript": "ENST00000618462.4",
"protein_id": "ENSP00000479409.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": -4,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7542G>A",
"hgvs_p": "p.Trp2514*",
"transcript": "NM_001395297.1",
"protein_id": "NP_001382226.1",
"transcript_support_level": null,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2525,
"cds_start": 7542,
"cds_end": null,
"cds_length": 7578,
"cdna_start": 7949,
"cdna_end": null,
"cdna_length": 8912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7353G>A",
"hgvs_p": "p.Trp2451*",
"transcript": "NM_001395299.1",
"protein_id": "NP_001382228.1",
"transcript_support_level": null,
"aa_start": 2451,
"aa_end": null,
"aa_length": 2462,
"cds_start": 7353,
"cds_end": null,
"cds_length": 7389,
"cdna_start": 7760,
"cdna_end": null,
"cdna_length": 8723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7347G>A",
"hgvs_p": "p.Trp2449*",
"transcript": "NM_001350521.4",
"protein_id": "NP_001337450.1",
"transcript_support_level": null,
"aa_start": 2449,
"aa_end": null,
"aa_length": 2460,
"cds_start": 7347,
"cds_end": null,
"cds_length": 7383,
"cdna_start": 7418,
"cdna_end": null,
"cdna_length": 8381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7113G>A",
"hgvs_p": "p.Trp2371*",
"transcript": "NM_001395302.1",
"protein_id": "NP_001382231.1",
"transcript_support_level": null,
"aa_start": 2371,
"aa_end": null,
"aa_length": 2382,
"cds_start": 7113,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 7184,
"cdna_end": null,
"cdna_length": 8147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7113G>A",
"hgvs_p": "p.Trp2371*",
"transcript": "ENST00000695768.1",
"protein_id": "ENSP00000512160.1",
"transcript_support_level": null,
"aa_start": 2371,
"aa_end": null,
"aa_length": 2382,
"cds_start": 7113,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 7478,
"cdna_end": null,
"cdna_length": 8418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7065G>A",
"hgvs_p": "p.Trp2355*",
"transcript": "NM_001395304.1",
"protein_id": "NP_001382233.1",
"transcript_support_level": null,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2366,
"cds_start": 7065,
"cds_end": null,
"cds_length": 7101,
"cdna_start": 7331,
"cdna_end": null,
"cdna_length": 8294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7053G>A",
"hgvs_p": "p.Trp2351*",
"transcript": "NM_001198834.5",
"protein_id": "NP_001185763.3",
"transcript_support_level": null,
"aa_start": 2351,
"aa_end": null,
"aa_length": 2362,
"cds_start": 7053,
"cds_end": null,
"cds_length": 7089,
"cdna_start": 7201,
"cdna_end": null,
"cdna_length": 8164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.7002G>A",
"hgvs_p": "p.Trp2334*",
"transcript": "NM_001350522.3",
"protein_id": "NP_001337451.1",
"transcript_support_level": null,
"aa_start": 2334,
"aa_end": null,
"aa_length": 2345,
"cds_start": 7002,
"cds_end": null,
"cds_length": 7038,
"cdna_start": 7268,
"cdna_end": null,
"cdna_length": 8231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.6921G>A",
"hgvs_p": "p.Trp2307*",
"transcript": "NM_001395306.1",
"protein_id": "NP_001382235.1",
"transcript_support_level": null,
"aa_start": 2307,
"aa_end": null,
"aa_length": 2318,
"cds_start": 6921,
"cds_end": null,
"cds_length": 6957,
"cdna_start": 7187,
"cdna_end": null,
"cdna_length": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.6822G>A",
"hgvs_p": "p.Trp2274*",
"transcript": "NM_001395308.1",
"protein_id": "NP_001382237.1",
"transcript_support_level": null,
"aa_start": 2274,
"aa_end": null,
"aa_length": 2285,
"cds_start": 6822,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 7088,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.6735G>A",
"hgvs_p": "p.Trp2245*",
"transcript": "NM_001395311.1",
"protein_id": "NP_001382240.1",
"transcript_support_level": null,
"aa_start": 2245,
"aa_end": null,
"aa_length": 2256,
"cds_start": 6735,
"cds_end": null,
"cds_length": 6771,
"cdna_start": 7001,
"cdna_end": null,
"cdna_length": 7964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.6732G>A",
"hgvs_p": "p.Trp2244*",
"transcript": "NM_001350523.3",
"protein_id": "NP_001337452.1",
"transcript_support_level": null,
"aa_start": 2244,
"aa_end": null,
"aa_length": 2255,
"cds_start": 6732,
"cds_end": null,
"cds_length": 6768,
"cdna_start": 6998,
"cdna_end": null,
"cdna_length": 7961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.6492G>A",
"hgvs_p": "p.Trp2164*",
"transcript": "NM_001395314.1",
"protein_id": "NP_001382243.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2175,
"cds_start": 6492,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 6758,
"cdna_end": null,
"cdna_length": 7721,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "n.396G>A",
"hgvs_p": null,
"transcript": "ENST00000464924.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 840,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"transcript": "ENST00000526182.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 277,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "n.*565G>A",
"hgvs_p": null,
"transcript": "ENST00000530062.5",
"protein_id": "ENSP00000436694.1",
"transcript_support_level": 2,
"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": 1076,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "n.5446G>A",
"hgvs_p": null,
"transcript": "ENST00000695770.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6400,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
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"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "n.505+4G>A",
"hgvs_p": null,
"transcript": "ENST00000525630.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"dbsnp": "rs1553638882",
"frequency_reference_population": 0.00029614614,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.000034297,
"gnomad_genomes_af": 0.000296146,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 45,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3100000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.327,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6_Very_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000695795.1",
"gene_symbol": "PDE4DIP",
"hgnc_id": 15580,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*68G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}