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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: 3-184301893-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184301893&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184301893,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002808.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "NM_002808.5",
"protein_id": "NP_002799.3",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 908,
"cds_start": 526,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310118.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002808.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000310118.9",
"protein_id": "ENSP00000310129.4",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 908,
"cds_start": 526,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002808.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310118.9"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000926941.1",
"protein_id": "ENSP00000597000.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 907,
"cds_start": 526,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926941.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000926945.1",
"protein_id": "ENSP00000597004.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 907,
"cds_start": 526,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926945.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000894414.1",
"protein_id": "ENSP00000564473.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 905,
"cds_start": 526,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894414.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.517G>C",
"hgvs_p": "p.Ala173Pro",
"transcript": "ENST00000894416.1",
"protein_id": "ENSP00000564475.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 905,
"cds_start": 517,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894416.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000926943.1",
"protein_id": "ENSP00000597002.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 901,
"cds_start": 526,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926943.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000926944.1",
"protein_id": "ENSP00000597003.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 894,
"cds_start": 526,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926944.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000894415.1",
"protein_id": "ENSP00000564474.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 881,
"cds_start": 526,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894415.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000926942.1",
"protein_id": "ENSP00000597001.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 881,
"cds_start": 526,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926942.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000941412.1",
"protein_id": "ENSP00000611471.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 859,
"cds_start": 526,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941412.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000894417.1",
"protein_id": "ENSP00000564476.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 820,
"cds_start": 526,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894417.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro",
"transcript": "ENST00000926948.1",
"protein_id": "ENSP00000597007.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 809,
"cds_start": 526,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926948.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.136G>C",
"hgvs_p": "p.Ala46Pro",
"transcript": "NM_001278708.2",
"protein_id": "NP_001265637.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 778,
"cds_start": 136,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278708.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.136G>C",
"hgvs_p": "p.Ala46Pro",
"transcript": "ENST00000439383.5",
"protein_id": "ENSP00000416028.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 778,
"cds_start": 136,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439383.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.49G>C",
"hgvs_p": "p.Ala17Pro",
"transcript": "NM_001278709.2",
"protein_id": "NP_001265638.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 749,
"cds_start": 49,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278709.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.49G>C",
"hgvs_p": "p.Ala17Pro",
"transcript": "ENST00000435761.5",
"protein_id": "ENSP00000402618.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 749,
"cds_start": 49,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435761.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.479+235G>C",
"hgvs_p": null,
"transcript": "ENST00000926946.1",
"protein_id": "ENSP00000597005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.479+235G>C",
"hgvs_p": null,
"transcript": "ENST00000926947.1",
"protein_id": "ENSP00000597006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": null,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "c.479+235G>C",
"hgvs_p": null,
"transcript": "ENST00000417952.5",
"protein_id": "ENSP00000414061.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417952.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "n.*578G>C",
"hgvs_p": null,
"transcript": "ENST00000433010.5",
"protein_id": "ENSP00000411494.1",
"transcript_support_level": 3,
"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": "ENST00000433010.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD2",
"gene_hgnc_id": 9559,
"hgvs_c": "n.390G>C",
"hgvs_p": null,
"transcript": "ENST00000445558.6",
"protein_id": "ENSP00000407259.2",
"transcript_support_level": 5,
"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": "ENST00000445558.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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{
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{
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{
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],
"gene_symbol": "PSMD2",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.123038649559021,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.1651,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.172,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002808.5",
"gene_symbol": "PSMD2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.526G>C",
"hgvs_p": "p.Ala176Pro"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}