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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: 19-18218153-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18218153&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18218153,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000923.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Asn410Lys",
"transcript": "NM_001098818.4",
"protein_id": "NP_001092288.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 680,
"cds_start": 1230,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": "ENST00000262805.17",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098818.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1230C>G",
"hgvs_p": "p.Asn410Lys",
"transcript": "ENST00000262805.17",
"protein_id": "ENSP00000262805.10",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 680,
"cds_start": 1230,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": "NM_001098818.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262805.17"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": null,
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Asn442Lys",
"transcript": "ENST00000355502.7",
"protein_id": "ENSP00000347689.2",
"transcript_support_level": 2,
"aa_start": 442,
"aa_end": null,
"aa_length": 712,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 5979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355502.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Asn442Lys",
"transcript": "ENST00000594465.7",
"protein_id": "ENSP00000470210.1",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 712,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594465.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Asn442Lys",
"transcript": "ENST00000594617.7",
"protein_id": "ENSP00000469696.1",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 712,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594617.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1008C>G",
"hgvs_p": "p.Asn336Lys",
"transcript": "ENST00000447275.7",
"protein_id": "ENSP00000402091.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 606,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447275.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.633C>G",
"hgvs_p": "p.Asn211Lys",
"transcript": "ENST00000539010.5",
"protein_id": "ENSP00000439470.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 481,
"cds_start": 633,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "n.746C>G",
"hgvs_p": null,
"transcript": "ENST00000597297.1",
"protein_id": null,
"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": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000597297.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "n.*437C>G",
"hgvs_p": null,
"transcript": "ENST00000598111.7",
"protein_id": "ENSP00000474591.4",
"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": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000598111.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "n.*437C>G",
"hgvs_p": null,
"transcript": "ENST00000598111.7",
"protein_id": "ENSP00000474591.4",
"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": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000598111.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Asn442Lys",
"transcript": "NM_000923.6",
"protein_id": "NP_000914.2",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 712,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000923.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Asn442Lys",
"transcript": "NM_001330172.2",
"protein_id": "NP_001317101.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 712,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 5341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330172.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Asn442Lys",
"transcript": "NM_001414480.1",
"protein_id": "NP_001401409.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 712,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414480.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1008C>G",
"hgvs_p": "p.Asn336Lys",
"transcript": "NM_001098819.4",
"protein_id": "NP_001092289.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 606,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098819.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.1008C>G",
"hgvs_p": "p.Asn336Lys",
"transcript": "NM_001395274.1",
"protein_id": "NP_001382203.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 606,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 5774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395274.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "c.633C>G",
"hgvs_p": "p.Asn211Lys",
"transcript": "NM_001369701.2",
"protein_id": "NP_001356630.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 481,
"cds_start": 633,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369701.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "n.2321C>G",
"hgvs_p": null,
"transcript": "ENST00000597360.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000597360.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "n.*484C>G",
"hgvs_p": null,
"transcript": "ENST00000599188.5",
"protein_id": "ENSP00000473713.2",
"transcript_support_level": 5,
"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": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000599188.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"hgvs_c": "n.*484C>G",
"hgvs_p": null,
"transcript": "ENST00000599188.5",
"protein_id": "ENSP00000473713.2",
"transcript_support_level": 5,
"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": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000599188.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268650",
"gene_hgnc_id": null,
"hgvs_c": "n.570+846G>C",
"hgvs_p": null,
"transcript": "ENST00000594805.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 855,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000594805.3"
}
],
"gene_symbol": "PDE4C",
"gene_hgnc_id": 8782,
"dbsnp": "rs151012513",
"frequency_reference_population": 0.000043407676,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000198592,
"gnomad_genomes_af": 0.000269135,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.71059250831604,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8153,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.048,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_000923.6",
"gene_symbol": "PDE4C",
"hgnc_id": 8782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Asn442Lys"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000594805.3",
"gene_symbol": "ENSG00000268650",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.570+846G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}