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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: 7-31775720-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=31775720&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 31775720,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001191058.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "NM_001191057.4",
"protein_id": "NP_001177986.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396191.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191057.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "ENST00000396191.6",
"protein_id": "ENSP00000379494.1",
"transcript_support_level": 2,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001191057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396191.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "NM_001191058.4",
"protein_id": "NP_001177987.2",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 769,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191058.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000396193.5",
"protein_id": "ENSP00000379496.1",
"transcript_support_level": 2,
"aa_start": 695,
"aa_end": null,
"aa_length": 769,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396193.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "NM_001191059.4",
"protein_id": "NP_001177988.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191059.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "NM_001322055.2",
"protein_id": "NP_001308984.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322055.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "ENST00000321453.12",
"protein_id": "ENSP00000318105.7",
"transcript_support_level": 2,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321453.12"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "ENST00000856457.1",
"protein_id": "ENSP00000526516.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856457.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "ENST00000952474.1",
"protein_id": "ENSP00000622533.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952474.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626His",
"transcript": "ENST00000952473.1",
"protein_id": "ENSP00000622532.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 700,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952473.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2189G>A",
"hgvs_p": "p.Arg730His",
"transcript": "XM_017012264.1",
"protein_id": "XP_016867753.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 804,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012264.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Arg675His",
"transcript": "XM_017012265.1",
"protein_id": "XP_016867754.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 749,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012265.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "XM_017012267.2",
"protein_id": "XP_016867756.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012267.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "XM_047420440.1",
"protein_id": "XP_047276396.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 709,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420440.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "XM_047420441.1",
"protein_id": "XP_047276397.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 699,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420441.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "XM_047420442.1",
"protein_id": "XP_047276398.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 699,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420442.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "XM_047420443.1",
"protein_id": "XP_047276399.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 699,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420443.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Arg522His",
"transcript": "XM_047420445.1",
"protein_id": "XP_047276401.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 596,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.2204G>A",
"hgvs_p": null,
"transcript": "XR_001744802.1",
"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": "XR_001744802.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.2204G>A",
"hgvs_p": null,
"transcript": "XR_001744803.1",
"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": "XR_001744803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.1956G>A",
"hgvs_p": null,
"transcript": "XR_007060042.1",
"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": "XR_007060042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.2373G>A",
"hgvs_p": null,
"transcript": "XR_007060043.1",
"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": "XR_007060043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "n.1956G>A",
"hgvs_p": null,
"transcript": "XR_007060044.1",
"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": "XR_007060044.1"
}
],
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"dbsnp": "rs192039751",
"frequency_reference_population": 0.00029825204,
"hom_count_reference_population": 3,
"allele_count_reference_population": 481,
"gnomad_exomes_af": 0.00016364,
"gnomad_genomes_af": 0.00158997,
"gnomad_exomes_ac": 239,
"gnomad_genomes_ac": 242,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006600230932235718,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.0622,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.271,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001191058.4",
"gene_symbol": "PDE1C",
"hgnc_id": 8776,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2084G>A",
"hgvs_p": "p.Arg695His"
}
],
"clinvar_disease": "PDE1C-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|PDE1C-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}