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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: 3-184307492-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184307492&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PSMD2",
"hgnc_id": 9559,
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Asn724Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002808.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9471,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8752025365829468,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 908,
"aa_ref": "N",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_002808.5",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Asn724Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310118.9",
"protein_coding": true,
"protein_id": "NP_002799.3",
"strand": true,
"transcript": "NM_002808.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 908,
"aa_ref": "N",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000310118.9",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Asn724Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002808.5",
"protein_coding": true,
"protein_id": "ENSP00000310129.4",
"strand": true,
"transcript": "ENST00000310118.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 907,
"aa_ref": "N",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000926941.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Asn724Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597000.1",
"strand": true,
"transcript": "ENST00000926941.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 907,
"aa_ref": "N",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000926945.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Asn723Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597004.1",
"strand": true,
"transcript": "ENST00000926945.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 905,
"aa_ref": "N",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000894414.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Asn724Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564473.1",
"strand": true,
"transcript": "ENST00000894414.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 905,
"aa_ref": "N",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000894416.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2161A>T",
"hgvs_p": "p.Asn721Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564475.1",
"strand": true,
"transcript": "ENST00000894416.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 901,
"aa_ref": "N",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000926943.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Asn724Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597002.1",
"strand": true,
"transcript": "ENST00000926943.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 894,
"aa_ref": "N",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": 2227,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000926944.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2170A>T",
"hgvs_p": "p.Asn724Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597003.1",
"strand": true,
"transcript": "ENST00000926944.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 881,
"aa_ref": "N",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000894415.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2089A>T",
"hgvs_p": "p.Asn697Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564474.1",
"strand": true,
"transcript": "ENST00000894415.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 881,
"aa_ref": "N",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000926942.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2089A>T",
"hgvs_p": "p.Asn697Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597001.1",
"strand": true,
"transcript": "ENST00000926942.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 859,
"aa_ref": "N",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000941412.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2023A>T",
"hgvs_p": "p.Asn675Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611471.1",
"strand": true,
"transcript": "ENST00000941412.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 809,
"aa_ref": "N",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1873,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000926948.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.1873A>T",
"hgvs_p": "p.Asn625Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597007.1",
"strand": true,
"transcript": "ENST00000926948.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 780,
"aa_ref": "N",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1786,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000926946.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.1786A>T",
"hgvs_p": "p.Asn596Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597005.1",
"strand": true,
"transcript": "ENST00000926946.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 778,
"aa_ref": "N",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001278708.2",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Asn594Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265637.1",
"strand": true,
"transcript": "NM_001278708.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 778,
"aa_ref": "N",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000439383.5",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Asn594Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416028.1",
"strand": true,
"transcript": "ENST00000439383.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 749,
"aa_ref": "N",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1907,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1693,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001278709.2",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.1693A>T",
"hgvs_p": "p.Asn565Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265638.1",
"strand": true,
"transcript": "NM_001278709.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 749,
"aa_ref": "N",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1907,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1693,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000435761.5",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.1693A>T",
"hgvs_p": "p.Asn565Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402618.1",
"strand": true,
"transcript": "ENST00000435761.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 201,
"aa_ref": "N",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 609,
"cdna_start": 468,
"cds_end": null,
"cds_length": 607,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432855.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.466A>T",
"hgvs_p": "p.Asn156Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400330.1",
"strand": true,
"transcript": "ENST00000432855.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 820,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": null,
"cds_end": null,
"cds_length": 2463,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894417.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.2035-398A>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564476.1",
"strand": true,
"transcript": "ENST00000894417.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 692,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": null,
"cds_end": null,
"cds_length": 2079,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926947.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "c.1651-398A>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597006.1",
"strand": true,
"transcript": "ENST00000926947.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 590,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000473991.1",
"gene_hgnc_id": 9559,
"gene_symbol": "PSMD2",
"hgvs_c": "n.249A>T",
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}