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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: 7-31775712-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=31775712&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PDE1C",
"hgnc_id": 8776,
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Gly698Ser",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001191058.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_score": -13,
"allele_count_reference_population": 2804,
"alphamissense_prediction": null,
"alphamissense_score": 0.0767,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "PDE1C-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002098768949508667,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4349,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001191057.4",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396191.6",
"protein_coding": true,
"protein_id": "NP_001177986.1",
"strand": false,
"transcript": "NM_001191057.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4349,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000396191.6",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001191057.4",
"protein_coding": true,
"protein_id": "ENSP00000379494.1",
"strand": false,
"transcript": "ENST00000396191.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 769,
"aa_ref": "G",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5108,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001191058.4",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Gly698Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177987.2",
"strand": false,
"transcript": "NM_001191058.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 769,
"aa_ref": "G",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5109,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000396193.5",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Gly698Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379496.1",
"strand": false,
"transcript": "ENST00000396193.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001191059.4",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177988.1",
"strand": false,
"transcript": "NM_001191059.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4622,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001322055.2",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308984.1",
"strand": false,
"transcript": "NM_001322055.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000321453.12",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318105.7",
"strand": false,
"transcript": "ENST00000321453.12",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000856457.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526516.1",
"strand": false,
"transcript": "ENST00000856457.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000952474.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622533.1",
"strand": false,
"transcript": "ENST00000952474.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 700,
"aa_ref": "G",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4619,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000952473.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1885G>A",
"hgvs_p": "p.Gly629Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622532.1",
"strand": false,
"transcript": "ENST00000952473.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4635,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2197,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017012264.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Gly733Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867753.1",
"strand": false,
"transcript": "XM_017012264.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 749,
"aa_ref": "G",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": 2063,
"cds_end": null,
"cds_length": 2250,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017012265.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Gly678Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867754.1",
"strand": false,
"transcript": "XM_017012265.1",
"transcript_support_level": null
},
{
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"aa_length": 709,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017012267.2",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867756.1",
"strand": false,
"transcript": "XM_017012267.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 709,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4762,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047420440.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276396.1",
"strand": false,
"transcript": "XM_047420440.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 699,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 2381,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047420441.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276397.1",
"strand": false,
"transcript": "XM_047420441.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 699,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047420442.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276398.1",
"strand": false,
"transcript": "XM_047420442.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 699,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047420443.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Gly638Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276399.1",
"strand": false,
"transcript": "XM_047420443.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 596,
"aa_ref": "G",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 52528,
"cdna_start": 50105,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1573,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047420445.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Gly525Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276401.1",
"strand": false,
"transcript": "XM_047420445.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XR_001744802.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "n.2212G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001744802.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XR_001744803.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
"hgvs_c": "n.2212G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001744803.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XR_007060042.1",
"gene_hgnc_id": 8776,
"gene_symbol": "PDE1C",
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