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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: 1-66332511-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=66332511&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 66332511,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002600.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Glu213Ala",
"transcript": "NM_002600.4",
"protein_id": "NP_002591.2",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 736,
"cds_start": 638,
"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": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Glu213Ala",
"transcript": "ENST00000341517.9",
"protein_id": "ENSP00000342637.4",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 736,
"cds_start": 638,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Glu213Ala",
"transcript": "ENST00000329654.8",
"protein_id": "ENSP00000332116.4",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 736,
"cds_start": 638,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.Glu198Ala",
"transcript": "ENST00000423207.6",
"protein_id": "ENSP00000392947.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 721,
"cds_start": 593,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.122A>C",
"hgvs_p": "p.Glu41Ala",
"transcript": "ENST00000371045.9",
"protein_id": "ENSP00000360084.5",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 564,
"cds_start": 122,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Glu213Ala",
"transcript": "NM_001037341.2",
"protein_id": "NP_001032418.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 736,
"cds_start": 638,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.Glu198Ala",
"transcript": "NM_001037340.3",
"protein_id": "NP_001032417.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 721,
"cds_start": 593,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.413A>C",
"hgvs_p": "p.Glu138Ala",
"transcript": "NM_001297441.1",
"protein_id": "NP_001284370.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 661,
"cds_start": 413,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.362A>C",
"hgvs_p": "p.Glu121Ala",
"transcript": "NM_001297440.2",
"protein_id": "NP_001284369.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 644,
"cds_start": 362,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.122A>C",
"hgvs_p": "p.Glu41Ala",
"transcript": "NM_001037339.2",
"protein_id": "NP_001032416.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 564,
"cds_start": 122,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.362A>C",
"hgvs_p": "p.Glu121Ala",
"transcript": "ENST00000412480.6",
"protein_id": "ENSP00000397548.2",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 146,
"cds_start": 362,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412480.6"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Glu86Ala",
"transcript": "XM_017001445.2",
"protein_id": "XP_016856934.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 609,
"cds_start": 257,
"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": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.23A>C",
"hgvs_p": "p.Glu8Ala",
"transcript": "XM_006710680.4",
"protein_id": "XP_006710743.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 531,
"cds_start": 23,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.-20A>C",
"hgvs_p": null,
"transcript": "ENST00000531025.5",
"protein_id": "ENSP00000437249.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.-20A>C",
"hgvs_p": null,
"transcript": "ENST00000526197.5",
"protein_id": "ENSP00000436104.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526197.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.-20A>C",
"hgvs_p": null,
"transcript": "ENST00000531025.5",
"protein_id": "ENSP00000437249.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.-20A>C",
"hgvs_p": null,
"transcript": "ENST00000528771.5",
"protein_id": "ENSP00000431909.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528771.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.-20A>C",
"hgvs_p": null,
"transcript": "XM_005270924.4",
"protein_id": "XP_005270981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.-20A>C",
"hgvs_p": null,
"transcript": "XM_005270925.3",
"protein_id": "XP_005270982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4B",
"gene_hgnc_id": 8781,
"hgvs_c": "c.-20A>C",
"hgvs_p": null,
"transcript": "XM_047422401.1",
"protein_id": "XP_047278357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"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": "rs1453424766",
"frequency_reference_population": 6.8407314e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84073e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6662803292274475,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.633,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.213,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002600.4",
"gene_symbol": "PDE4B",
"hgnc_id": 8781,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Glu213Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}