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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: 3-9447834-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9447834&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SETD5",
"hgnc_id": 25566,
"hgvs_c": "c.1988C>G",
"hgvs_p": "p.Ser663*",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001437635.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "3",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "S",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 4329,
"cds_start": 1931,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001080517.3",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1931C>G",
"hgvs_p": "p.Ser644*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402198.7",
"protein_coding": true,
"protein_id": "NP_001073986.1",
"strand": true,
"transcript": "NM_001080517.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "S",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 4329,
"cds_start": 1931,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000402198.7",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1931C>G",
"hgvs_p": "p.Ser644*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080517.3",
"protein_coding": true,
"protein_id": "ENSP00000385852.2",
"strand": true,
"transcript": "ENST00000402198.7",
"transcript_support_level": 5
},
{
"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": 4861,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000493918.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "n.2095C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000493918.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "S",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7037,
"cdna_start": 2527,
"cds_end": null,
"cds_length": 4443,
"cds_start": 1988,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001437635.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1988C>G",
"hgvs_p": "p.Ser663*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424564.1",
"strand": true,
"transcript": "NM_001437635.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "S",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7019,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 4425,
"cds_start": 2027,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001437633.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.2027C>G",
"hgvs_p": "p.Ser676*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424562.1",
"strand": true,
"transcript": "NM_001437633.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "S",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 4425,
"cds_start": 2027,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000682536.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.2027C>G",
"hgvs_p": "p.Ser676*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507956.1",
"strand": true,
"transcript": "ENST00000682536.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "S",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5334,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 4401,
"cds_start": 1988,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866906.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1988C>G",
"hgvs_p": "p.Ser663*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536965.1",
"strand": true,
"transcript": "ENST00000866906.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "S",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7515,
"cdna_start": 3005,
"cds_end": null,
"cds_length": 4386,
"cds_start": 1931,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001437643.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1931C>G",
"hgvs_p": "p.Ser644*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424572.1",
"strand": true,
"transcript": "NM_001437643.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "S",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 4386,
"cds_start": 1988,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000407969.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1988C>G",
"hgvs_p": "p.Ser663*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384114.1",
"strand": true,
"transcript": "ENST00000407969.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1460,
"aa_ref": "S",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 2448,
"cds_end": null,
"cds_length": 4383,
"cds_start": 1970,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866907.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1970C>G",
"hgvs_p": "p.Ser657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536966.1",
"strand": true,
"transcript": "ENST00000866907.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "S",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6962,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 4368,
"cds_start": 1970,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001437701.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1970C>G",
"hgvs_p": "p.Ser657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424630.1",
"strand": true,
"transcript": "NM_001437701.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "S",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5300,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 4368,
"cds_start": 1970,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000866905.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1970C>G",
"hgvs_p": "p.Ser657*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536964.1",
"strand": true,
"transcript": "ENST00000866905.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "S",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 2121,
"cds_end": null,
"cds_length": 4329,
"cds_start": 1931,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000406341.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1931C>G",
"hgvs_p": "p.Ser644*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383939.1",
"strand": true,
"transcript": "ENST00000406341.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "S",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 4035,
"cds_start": 1637,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001292043.2",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278972.1",
"strand": true,
"transcript": "NM_001292043.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "S",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7228,
"cdna_start": 2775,
"cds_end": null,
"cds_length": 4035,
"cds_start": 1637,
"consequences": [
"stop_gained"
],
"exon_count": 26,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001349451.2",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1637C>G",
"hgvs_p": "p.Ser546*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336380.1",
"strand": true,
"transcript": "NM_001349451.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 931,
"aa_ref": "S",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4416,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 2796,
"cds_start": 1931,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000684055.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.1931C>G",
"hgvs_p": "p.Ser644*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507953.1",
"strand": true,
"transcript": "ENST00000684055.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 910,
"aa_ref": "S",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 933,
"cds_end": null,
"cds_length": 2733,
"cds_start": 932,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000399686.6",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.932C>G",
"hgvs_p": "p.Ser311*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382593.2",
"strand": true,
"transcript": "ENST00000399686.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 249,
"aa_ref": "S",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 148,
"cds_end": null,
"cds_length": 750,
"cds_start": 146,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000488236.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ser49*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507801.1",
"strand": true,
"transcript": "ENST00000488236.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "S",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11637,
"cdna_start": 7119,
"cds_end": null,
"cds_length": 4503,
"cds_start": 2048,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047448466.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.2048C>G",
"hgvs_p": "p.Ser683*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304422.1",
"strand": true,
"transcript": "XM_047448466.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "S",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10609,
"cdna_start": 6091,
"cds_end": null,
"cds_length": 4503,
"cds_start": 2048,
"consequences": [
"stop_gained"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047448467.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.2048C>G",
"hgvs_p": "p.Ser683*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304423.1",
"strand": true,
"transcript": "XM_047448467.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "S",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12577,
"cdna_start": 8059,
"cds_end": null,
"cds_length": 4503,
"cds_start": 2048,
"consequences": [
"stop_gained"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047448468.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.2048C>G",
"hgvs_p": "p.Ser683*",
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