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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: 1-66372393-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=66372393&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 66372393,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002600.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.Leu642Leu",
"transcript": "NM_002600.4",
"protein_id": "NP_002591.2",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 736,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341517.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002600.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.Leu642Leu",
"transcript": "ENST00000341517.9",
"protein_id": "ENSP00000342637.4",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 736,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002600.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341517.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.Leu642Leu",
"transcript": "ENST00000329654.8",
"protein_id": "ENSP00000332116.4",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 736,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329654.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1881C>T",
"hgvs_p": "p.Leu627Leu",
"transcript": "ENST00000423207.6",
"protein_id": "ENSP00000392947.2",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 721,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423207.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Leu470Leu",
"transcript": "ENST00000371045.9",
"protein_id": "ENSP00000360084.5",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 564,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371045.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1227C>T",
"hgvs_p": "p.Leu409Leu",
"transcript": "ENST00000480109.2",
"protein_id": "ENSP00000432592.1",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 503,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480109.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.Leu642Leu",
"transcript": "NM_001037341.2",
"protein_id": "NP_001032418.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 736,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037341.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1881C>T",
"hgvs_p": "p.Leu627Leu",
"transcript": "NM_001037340.3",
"protein_id": "NP_001032417.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 721,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037340.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1701C>T",
"hgvs_p": "p.Leu567Leu",
"transcript": "NM_001297441.1",
"protein_id": "NP_001284370.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 661,
"cds_start": 1701,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297441.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1650C>T",
"hgvs_p": "p.Leu550Leu",
"transcript": "NM_001297440.2",
"protein_id": "NP_001284369.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 644,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297440.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1410C>T",
"hgvs_p": "p.Leu470Leu",
"transcript": "NM_001037339.2",
"protein_id": "NP_001032416.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 564,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037339.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1227C>T",
"hgvs_p": "p.Leu409Leu",
"transcript": "NM_001297442.2",
"protein_id": "NP_001284371.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 503,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297442.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1545C>T",
"hgvs_p": "p.Leu515Leu",
"transcript": "XM_017001445.2",
"protein_id": "XP_016856934.2",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 609,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001445.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Leu437Leu",
"transcript": "XM_006710680.4",
"protein_id": "XP_006710743.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 531,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710680.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Leu423Leu",
"transcript": "XM_005270924.4",
"protein_id": "XP_005270981.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 517,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270924.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Leu423Leu",
"transcript": "XM_005270925.3",
"protein_id": "XP_005270982.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 517,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270925.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Leu423Leu",
"transcript": "XM_047422401.1",
"protein_id": "XP_047278357.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 517,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422401.1"
}
],
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"dbsnp": "rs79722858",
"frequency_reference_population": 0.010112319,
"hom_count_reference_population": 128,
"allele_count_reference_population": 16321,
"gnomad_exomes_af": 0.0102953,
"gnomad_genomes_af": 0.00835545,
"gnomad_exomes_ac": 15049,
"gnomad_genomes_ac": 1272,
"gnomad_exomes_homalt": 118,
"gnomad_genomes_homalt": 10,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.036,
"phylop100way_prediction": "Benign",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002600.4",
"gene_symbol": "PDE4B",
"hgnc_id": 8781,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.Leu642Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}