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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: 17-17248951-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17248951&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17248951,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003653.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Ala371Gly",
"transcript": "NM_003653.4",
"protein_id": "NP_003644.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 423,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268717.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003653.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Ala371Gly",
"transcript": "ENST00000268717.10",
"protein_id": "ENSP00000268717.5",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 423,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003653.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268717.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1112C>G",
"hgvs_p": "p.Ala371Gly",
"transcript": "ENST00000954596.1",
"protein_id": "ENSP00000624655.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 423,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954596.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1094C>G",
"hgvs_p": "p.Ala365Gly",
"transcript": "ENST00000954594.1",
"protein_id": "ENSP00000624653.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 417,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954594.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1076C>G",
"hgvs_p": "p.Ala359Gly",
"transcript": "ENST00000904397.1",
"protein_id": "ENSP00000574456.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 411,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904397.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1052C>G",
"hgvs_p": "p.Ala351Gly",
"transcript": "NM_001199125.1",
"protein_id": "NP_001186054.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 403,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199125.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1052C>G",
"hgvs_p": "p.Ala351Gly",
"transcript": "ENST00000539941.6",
"protein_id": "ENSP00000437606.2",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 403,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539941.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1031C>G",
"hgvs_p": "p.Ala344Gly",
"transcript": "ENST00000904395.1",
"protein_id": "ENSP00000574454.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 396,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904395.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1025C>G",
"hgvs_p": "p.Ala342Gly",
"transcript": "ENST00000904392.1",
"protein_id": "ENSP00000574451.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 394,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904392.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.1019C>G",
"hgvs_p": "p.Ala340Gly",
"transcript": "ENST00000938832.1",
"protein_id": "ENSP00000608891.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 392,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938832.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.971C>G",
"hgvs_p": "p.Ala324Gly",
"transcript": "ENST00000904393.1",
"protein_id": "ENSP00000574452.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 376,
"cds_start": 971,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904393.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.944C>G",
"hgvs_p": "p.Ala315Gly",
"transcript": "ENST00000938834.1",
"protein_id": "ENSP00000608893.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 367,
"cds_start": 944,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938834.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.938C>G",
"hgvs_p": "p.Ala313Gly",
"transcript": "NM_001316355.2",
"protein_id": "NP_001303284.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 365,
"cds_start": 938,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316355.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.911C>G",
"hgvs_p": "p.Ala304Gly",
"transcript": "NM_001316356.2",
"protein_id": "NP_001303285.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 356,
"cds_start": 911,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316356.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Ala293Gly",
"transcript": "ENST00000439936.6",
"protein_id": "ENSP00000413298.2",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 345,
"cds_start": 878,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439936.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ala284Gly",
"transcript": "ENST00000938833.1",
"protein_id": "ENSP00000608892.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 336,
"cds_start": 851,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938833.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.797C>G",
"hgvs_p": "p.Ala266Gly",
"transcript": "NM_001316357.2",
"protein_id": "NP_001303286.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 318,
"cds_start": 797,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316357.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.797C>G",
"hgvs_p": "p.Ala266Gly",
"transcript": "NM_001316358.2",
"protein_id": "NP_001303287.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 318,
"cds_start": 797,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316358.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.797C>G",
"hgvs_p": "p.Ala266Gly",
"transcript": "ENST00000954595.1",
"protein_id": "ENSP00000624654.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 318,
"cds_start": 797,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954595.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Ala264Gly",
"transcript": "ENST00000938831.1",
"protein_id": "ENSP00000608890.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 316,
"cds_start": 791,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938831.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Ala241Gly",
"transcript": "NM_001316354.2",
"protein_id": "NP_001303283.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 293,
"cds_start": 722,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316354.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPS3",
"gene_hgnc_id": 2239,
"hgvs_c": "c.206C>G",
"hgvs_p": "p.Ala69Gly",
"transcript": "ENST00000938830.1",
"protein_id": "ENSP00000608889.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 121,
"cds_start": 206,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938830.1"
},
{
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{
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{
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],
"gene_symbol": "COPS3",
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"dbsnp": "rs775388275",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4016045928001404,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.742,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003653.4",
"gene_symbol": "COPS3",
"hgnc_id": 2239,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ala371Gly"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000724562.1",
"gene_symbol": "ENSG00000294588",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.274-22G>C",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}