← Back to variant description
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: 17-39988779-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39988779&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39988779,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002809.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "NM_002809.4",
"protein_id": "NP_002800.2",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 534,
"cds_start": 646,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264639.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002809.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000264639.9",
"protein_id": "ENSP00000264639.4",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 534,
"cds_start": 646,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002809.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264639.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Arg214Gly",
"transcript": "ENST00000916285.1",
"protein_id": "ENSP00000586344.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 532,
"cds_start": 640,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916285.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000916290.1",
"protein_id": "ENSP00000586349.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 525,
"cds_start": 619,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916290.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000871890.1",
"protein_id": "ENSP00000541949.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 519,
"cds_start": 646,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871890.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000916286.1",
"protein_id": "ENSP00000586345.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 517,
"cds_start": 646,
"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": "ENST00000916286.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000916288.1",
"protein_id": "ENSP00000586347.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 494,
"cds_start": 646,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916288.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.508C>G",
"hgvs_p": "p.Arg170Gly",
"transcript": "ENST00000871891.1",
"protein_id": "ENSP00000541950.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 488,
"cds_start": 508,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871891.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000871889.1",
"protein_id": "ENSP00000541948.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 482,
"cds_start": 646,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871889.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000916287.1",
"protein_id": "ENSP00000586346.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 442,
"cds_start": 646,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916287.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000871888.1",
"protein_id": "ENSP00000541947.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 421,
"cds_start": 646,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871888.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"transcript": "ENST00000916289.1",
"protein_id": "ENSP00000586348.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 369,
"cds_start": 646,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916289.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Arg67Gly",
"transcript": "ENST00000540504.2",
"protein_id": "ENSP00000444980.2",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 116,
"cds_start": 199,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540504.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "n.*120C>G",
"hgvs_p": null,
"transcript": "ENST00000415039.7",
"protein_id": "ENSP00000407410.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415039.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "n.126C>G",
"hgvs_p": null,
"transcript": "ENST00000580980.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000580980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3-AS1",
"gene_hgnc_id": 58140,
"hgvs_c": "n.654G>C",
"hgvs_p": null,
"transcript": "ENST00000801108.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000801108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124904000",
"gene_hgnc_id": null,
"hgvs_c": "n.3472G>C",
"hgvs_p": null,
"transcript": "XR_007065751.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007065751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"hgvs_c": "n.*120C>G",
"hgvs_p": null,
"transcript": "ENST00000415039.7",
"protein_id": "ENSP00000407410.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415039.7"
}
],
"gene_symbol": "PSMD3",
"gene_hgnc_id": 9560,
"dbsnp": "rs747385961",
"frequency_reference_population": 0.0000065717704,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9098300933837891,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.801,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9699,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.782,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002809.4",
"gene_symbol": "PSMD3",
"hgnc_id": 9560,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000801108.1",
"gene_symbol": "PSMD3-AS1",
"hgnc_id": 58140,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.654G>C",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007065751.1",
"gene_symbol": "LOC124904000",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3472G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}