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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: 14-35095103-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=35095103&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 35095103,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017917.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Thr307Ser",
"transcript": "NM_017917.4",
"protein_id": "NP_060387.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 453,
"cds_start": 920,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261475.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017917.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Thr307Ser",
"transcript": "ENST00000261475.10",
"protein_id": "ENSP00000261475.5",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 453,
"cds_start": 920,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017917.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261475.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*723C>G",
"hgvs_p": null,
"transcript": "ENST00000557217.5",
"protein_id": "ENSP00000452436.1",
"transcript_support_level": 1,
"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": "ENST00000557217.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*723C>G",
"hgvs_p": null,
"transcript": "ENST00000557217.5",
"protein_id": "ENSP00000452436.1",
"transcript_support_level": 1,
"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": "ENST00000557217.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*641+1455C>G",
"hgvs_p": null,
"transcript": "ENST00000553273.5",
"protein_id": "ENSP00000451075.1",
"transcript_support_level": 1,
"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": "ENST00000553273.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.941C>G",
"hgvs_p": "p.Thr314Ser",
"transcript": "ENST00000892731.1",
"protein_id": "ENSP00000562790.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 460,
"cds_start": 941,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892731.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Thr297Ser",
"transcript": "ENST00000928308.1",
"protein_id": "ENSP00000598367.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 443,
"cds_start": 890,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928308.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.638C>G",
"hgvs_p": "p.Thr213Ser",
"transcript": "ENST00000928307.1",
"protein_id": "ENSP00000598366.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 359,
"cds_start": 638,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928307.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.638C>G",
"hgvs_p": "p.Thr213Ser",
"transcript": "ENST00000955603.1",
"protein_id": "ENSP00000625662.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 359,
"cds_start": 638,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955603.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Thr197Ser",
"transcript": "NM_001305155.2",
"protein_id": "NP_001292084.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 343,
"cds_start": 590,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305155.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Thr197Ser",
"transcript": "NM_001305156.2",
"protein_id": "NP_001292085.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 343,
"cds_start": 590,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305156.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Thr169Ser",
"transcript": "ENST00000928309.1",
"protein_id": "ENSP00000598368.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 315,
"cds_start": 506,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928309.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Thr28Ser",
"transcript": "ENST00000555219.1",
"protein_id": "ENSP00000452173.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 128,
"cds_start": 83,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555219.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Thr307Ser",
"transcript": "XM_005267782.5",
"protein_id": "XP_005267839.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 453,
"cds_start": 920,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267782.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.827C>G",
"hgvs_p": "p.Thr276Ser",
"transcript": "XM_024449638.2",
"protein_id": "XP_024305406.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 422,
"cds_start": 827,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449638.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Thr255Ser",
"transcript": "XM_024449639.2",
"protein_id": "XP_024305407.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 401,
"cds_start": 764,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449639.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.187-3896C>G",
"hgvs_p": null,
"transcript": "ENST00000928310.1",
"protein_id": "ENSP00000598369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 190,
"cds_start": null,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.838+1455C>G",
"hgvs_p": null,
"transcript": "XM_047431517.1",
"protein_id": "XP_047287473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*723C>G",
"hgvs_p": null,
"transcript": "ENST00000554222.5",
"protein_id": "ENSP00000451416.1",
"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": "ENST00000554222.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*623C>G",
"hgvs_p": null,
"transcript": "ENST00000554899.5",
"protein_id": "ENSP00000452263.1",
"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": "ENST00000554899.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*723C>G",
"hgvs_p": null,
"transcript": "ENST00000554222.5",
"protein_id": "ENSP00000451416.1",
"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": "ENST00000554222.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*623C>G",
"hgvs_p": null,
"transcript": "ENST00000554899.5",
"protein_id": "ENSP00000452263.1",
"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,
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"bayesdelnoaf_score": -0.05,
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{
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}