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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: 1-66365687-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=66365687&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 66365687,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000341517.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Glu435Glu",
"transcript": "NM_002600.4",
"protein_id": "NP_002591.2",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 736,
"cds_start": 1305,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": "ENST00000341517.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Glu435Glu",
"transcript": "ENST00000341517.9",
"protein_id": "ENSP00000342637.4",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 736,
"cds_start": 1305,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": "NM_002600.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Glu435Glu",
"transcript": "ENST00000329654.8",
"protein_id": "ENSP00000332116.4",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 736,
"cds_start": 1305,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Glu420Glu",
"transcript": "ENST00000423207.6",
"protein_id": "ENSP00000392947.2",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 721,
"cds_start": 1260,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Glu263Glu",
"transcript": "ENST00000371045.9",
"protein_id": "ENSP00000360084.5",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 564,
"cds_start": 789,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.606G>A",
"hgvs_p": "p.Glu202Glu",
"transcript": "ENST00000480109.2",
"protein_id": "ENSP00000432592.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 503,
"cds_start": 606,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Glu435Glu",
"transcript": "NM_001037341.2",
"protein_id": "NP_001032418.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 736,
"cds_start": 1305,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 4298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Glu420Glu",
"transcript": "NM_001037340.3",
"protein_id": "NP_001032417.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 721,
"cds_start": 1260,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1080G>A",
"hgvs_p": "p.Glu360Glu",
"transcript": "NM_001297441.1",
"protein_id": "NP_001284370.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 661,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.1029G>A",
"hgvs_p": "p.Glu343Glu",
"transcript": "NM_001297440.2",
"protein_id": "NP_001284369.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 644,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.789G>A",
"hgvs_p": "p.Glu263Glu",
"transcript": "NM_001037339.2",
"protein_id": "NP_001032416.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 564,
"cds_start": 789,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.606G>A",
"hgvs_p": "p.Glu202Glu",
"transcript": "NM_001297442.2",
"protein_id": "NP_001284371.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 503,
"cds_start": 606,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Glu308Glu",
"transcript": "XM_017001445.2",
"protein_id": "XP_016856934.2",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 609,
"cds_start": 924,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"transcript": "XM_006710680.4",
"protein_id": "XP_006710743.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 531,
"cds_start": 690,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Glu216Glu",
"transcript": "XM_005270924.4",
"protein_id": "XP_005270981.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 517,
"cds_start": 648,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Glu216Glu",
"transcript": "XM_005270925.3",
"protein_id": "XP_005270982.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 517,
"cds_start": 648,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Glu216Glu",
"transcript": "XM_047422401.1",
"protein_id": "XP_047278357.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 517,
"cds_start": 648,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"dbsnp": "rs783036",
"frequency_reference_population": 0.48895356,
"hom_count_reference_population": 198180,
"allele_count_reference_population": 784039,
"gnomad_exomes_af": 0.48242,
"gnomad_genomes_af": 0.551326,
"gnomad_exomes_ac": 700211,
"gnomad_genomes_ac": 83828,
"gnomad_exomes_homalt": 173485,
"gnomad_genomes_homalt": 24695,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.313,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000341517.9",
"gene_symbol": "PDE4B",
"hgnc_id": 8781,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Glu435Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}