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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: 15-85100169-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=85100169&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 85100169,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002605.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ser336Phe",
"transcript": "NM_002605.3",
"protein_id": "NP_002596.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 829,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394553.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002605.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ser336Phe",
"transcript": "ENST00000394553.6",
"protein_id": "ENSP00000378056.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 829,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002605.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394553.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ser336Phe",
"transcript": "ENST00000310298.8",
"protein_id": "ENSP00000311453.4",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 829,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310298.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ser290Phe",
"transcript": "ENST00000339708.9",
"protein_id": "ENSP00000340679.5",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 783,
"cds_start": 869,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339708.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "n.*241C>T",
"hgvs_p": null,
"transcript": "ENST00000478717.5",
"protein_id": "ENSP00000432309.1",
"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": "ENST00000478717.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "n.*386C>T",
"hgvs_p": null,
"transcript": "ENST00000485596.5",
"protein_id": "ENSP00000431976.1",
"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": "ENST00000485596.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "n.*94C>T",
"hgvs_p": null,
"transcript": "ENST00000559742.5",
"protein_id": "ENSP00000452907.1",
"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": "ENST00000559742.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "n.*241C>T",
"hgvs_p": null,
"transcript": "ENST00000478717.5",
"protein_id": "ENSP00000432309.1",
"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": "ENST00000478717.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "n.*386C>T",
"hgvs_p": null,
"transcript": "ENST00000485596.5",
"protein_id": "ENSP00000431976.1",
"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": "ENST00000485596.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "n.*94C>T",
"hgvs_p": null,
"transcript": "ENST00000559742.5",
"protein_id": "ENSP00000452907.1",
"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": "ENST00000559742.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Ser342Phe",
"transcript": "ENST00000962320.1",
"protein_id": "ENSP00000632379.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 835,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962320.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ser336Phe",
"transcript": "ENST00000853253.1",
"protein_id": "ENSP00000523312.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 829,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853253.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ser336Phe",
"transcript": "ENST00000911346.1",
"protein_id": "ENSP00000581405.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 829,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911346.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ser333Phe",
"transcript": "ENST00000962321.1",
"protein_id": "ENSP00000632380.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 826,
"cds_start": 998,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962321.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Ser317Phe",
"transcript": "ENST00000853258.1",
"protein_id": "ENSP00000523317.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 810,
"cds_start": 950,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853258.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ser336Phe",
"transcript": "ENST00000853254.1",
"protein_id": "ENSP00000523313.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 807,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853254.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ser290Phe",
"transcript": "NM_173454.1",
"protein_id": "NP_775656.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 783,
"cds_start": 869,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173454.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ser288Phe",
"transcript": "ENST00000962319.1",
"protein_id": "ENSP00000632378.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 781,
"cds_start": 863,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962319.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ser264Phe",
"transcript": "NM_001243137.2",
"protein_id": "NP_001230066.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 757,
"cds_start": 791,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243137.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ser264Phe",
"transcript": "ENST00000557957.5",
"protein_id": "ENSP00000453808.1",
"transcript_support_level": 2,
"aa_start": 264,
"aa_end": null,
"aa_length": 757,
"cds_start": 791,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557957.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ser235Phe",
"transcript": "ENST00000853257.1",
"protein_id": "ENSP00000523316.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 728,
"cds_start": 704,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853257.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8A",
"gene_hgnc_id": 8793,
"hgvs_c": "c.1007C>T",
"hgvs_p": "p.Ser336Phe",
"transcript": "ENST00000962318.1",
"protein_id": "ENSP00000632377.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 712,
"cds_start": 1007,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}