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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: 14-103738752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103738752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPP1R13B",
"hgnc_id": 14950,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_015316.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.9145,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5772005319595337,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1090,
"aa_ref": "A",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5500,
"cdna_start": 3059,
"cds_end": null,
"cds_length": 3273,
"cds_start": 2791,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_015316.3",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000202556.14",
"protein_coding": true,
"protein_id": "NP_056131.2",
"strand": false,
"transcript": "NM_015316.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1090,
"aa_ref": "A",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5500,
"cdna_start": 3059,
"cds_end": null,
"cds_length": 3273,
"cds_start": 2791,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000202556.14",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015316.3",
"protein_coding": true,
"protein_id": "ENSP00000202556.9",
"strand": false,
"transcript": "ENST00000202556.14",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 970,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000556334.5",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "n.448G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000556334.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "A",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 3164,
"cds_end": null,
"cds_length": 3378,
"cds_start": 2896,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869341.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2896G>A",
"hgvs_p": "p.Ala966Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539400.1",
"strand": false,
"transcript": "ENST00000869341.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1075,
"aa_ref": "A",
"aa_start": 916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5187,
"cdna_start": 2746,
"cds_end": null,
"cds_length": 3228,
"cds_start": 2746,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000647748.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2746G>A",
"hgvs_p": "p.Ala916Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497343.1",
"strand": false,
"transcript": "ENST00000647748.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "A",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4820,
"cdna_start": 2939,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2671,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000869342.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Ala891Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539401.1",
"strand": false,
"transcript": "ENST00000869342.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1193,
"aa_ref": "A",
"aa_start": 1034,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5871,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 3582,
"cds_start": 3100,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011536593.4",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.3100G>A",
"hgvs_p": "p.Ala1034Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534895.1",
"strand": false,
"transcript": "XM_011536593.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "A",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5766,
"cdna_start": 3325,
"cds_end": null,
"cds_length": 3477,
"cds_start": 2995,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005267487.6",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Ala999Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267544.1",
"strand": false,
"transcript": "XM_005267487.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "A",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5605,
"cdna_start": 3164,
"cds_end": null,
"cds_length": 3378,
"cds_start": 2896,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017021116.2",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2896G>A",
"hgvs_p": "p.Ala966Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876605.1",
"strand": false,
"transcript": "XM_017021116.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1122,
"aa_ref": "A",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5456,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 3369,
"cds_start": 2887,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017021117.2",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2887G>A",
"hgvs_p": "p.Ala963Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876606.1",
"strand": false,
"transcript": "XM_017021117.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1122,
"aa_ref": "A",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": 2909,
"cds_end": null,
"cds_length": 3369,
"cds_start": 2887,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431170.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2887G>A",
"hgvs_p": "p.Ala963Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287126.1",
"strand": false,
"transcript": "XM_047431170.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "A",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 2910,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2782,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431171.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2782G>A",
"hgvs_p": "p.Ala928Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287127.1",
"strand": false,
"transcript": "XM_047431171.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "A",
"aa_start": 1034,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 3249,
"cds_start": 3100,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047431172.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.3100G>A",
"hgvs_p": "p.Ala1034Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287128.1",
"strand": false,
"transcript": "XM_047431172.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 873,
"aa_ref": "A",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017021119.2",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Ala714Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876608.1",
"strand": false,
"transcript": "XM_017021119.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932297.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "c.1151-2550G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602356.1",
"strand": false,
"transcript": "ENST00000932297.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000554432.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "n.432G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000554432.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555391.5",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "n.1766G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000555391.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 546,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000556325.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "n.473G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000556325.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000556597.1",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "n.1756G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451739.1",
"strand": false,
"transcript": "ENST00000556597.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000557082.5",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
"hgvs_c": "n.*3036G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451396.1",
"strand": false,
"transcript": "ENST00000557082.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4870,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XR_001750204.3",
"gene_hgnc_id": 14950,
"gene_symbol": "PPP1R13B",
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}