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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: 15-43746595-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43746595&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PDIA3",
"hgnc_id": 4606,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_005313.5",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "CATSPER2P1",
"hgnc_id": null,
"hgvs_c": "n.510G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000429276.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 877,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1898,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "15",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0061574578285217285,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1518,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_005313.5",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300289.10",
"protein_coding": true,
"protein_id": "NP_005304.3",
"strand": true,
"transcript": "NM_005313.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1518,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000300289.10",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005313.5",
"protein_coding": true,
"protein_id": "ENSP00000300289.5",
"strand": true,
"transcript": "ENST00000300289.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 512,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1539,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000688851.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510205.1",
"strand": true,
"transcript": "ENST00000688851.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 173,
"cds_end": null,
"cds_length": 1500,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000891522.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561581.1",
"strand": true,
"transcript": "ENST00000891522.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 487,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1464,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000691893.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509980.1",
"strand": true,
"transcript": "ENST00000691893.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1434,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684793.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509699.1",
"strand": true,
"transcript": "ENST00000684793.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1410,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000891526.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561585.1",
"strand": true,
"transcript": "ENST00000891526.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 463,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 173,
"cds_end": null,
"cds_length": 1392,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000891521.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561580.1",
"strand": true,
"transcript": "ENST00000891521.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 462,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 159,
"cds_end": null,
"cds_length": 1389,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000686314.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508750.1",
"strand": true,
"transcript": "ENST00000686314.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 456,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1371,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000688652.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509178.1",
"strand": true,
"transcript": "ENST00000688652.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 168,
"cds_end": null,
"cds_length": 1362,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000691274.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510333.1",
"strand": true,
"transcript": "ENST00000691274.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 447,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1344,
"cds_start": 56,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000891525.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561584.1",
"strand": true,
"transcript": "ENST00000891525.1",
"transcript_support_level": null
},
{
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"aa_length": 416,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 188,
"cds_end": null,
"cds_length": 1251,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000686175.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509133.1",
"strand": true,
"transcript": "ENST00000686175.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 363,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1092,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000940337.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610396.1",
"strand": true,
"transcript": "ENST00000940337.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 360,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1083,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000891524.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561583.1",
"strand": true,
"transcript": "ENST00000891524.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 218,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 158,
"cds_end": null,
"cds_length": 657,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000891523.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561582.1",
"strand": true,
"transcript": "ENST00000891523.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 159,
"aa_ref": "A",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1213,
"cdna_start": 147,
"cds_end": null,
"cds_length": 480,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000688330.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ala19Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509857.1",
"strand": true,
"transcript": "ENST00000688330.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 995,
"cdna_start": null,
"cds_end": null,
"cds_length": 350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000686929.1",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "c.-512+25C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510462.1",
"strand": true,
"transcript": "ENST00000686929.1",
"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": 1476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000429276.2",
"gene_hgnc_id": null,
"gene_symbol": "CATSPER2P1",
"hgvs_c": "n.510G>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": "ENST00000429276.2",
"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": 2107,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000434494.5",
"gene_hgnc_id": 4606,
"gene_symbol": "PDIA3",
"hgvs_c": "n.56C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000398005.1",
"strand": true,
"transcript": "ENST00000434494.5",
"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": 596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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