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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: 3-9428973-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9428973&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SETD5",
"hgnc_id": 25566,
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001437635.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 26,
"alphamissense_prediction": null,
"alphamissense_score": 0.3978,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.197794109582901,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 574,
"cds_end": null,
"cds_length": 4329,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001080517.3",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 574,
"cds_end": null,
"cds_length": 4329,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000402198.7",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7037,
"cdna_start": 574,
"cds_end": null,
"cds_length": 4443,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001437635.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7019,
"cdna_start": 574,
"cds_end": null,
"cds_length": 4425,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001437633.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 308,
"cds_end": null,
"cds_length": 4425,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000682536.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5334,
"cdna_start": 581,
"cds_end": null,
"cds_length": 4401,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866906.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7515,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 4386,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001437643.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 49,
"cds_end": null,
"cds_length": 4386,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000407969.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1460,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 513,
"cds_end": null,
"cds_length": 4383,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866907.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6962,
"cdna_start": 574,
"cds_end": null,
"cds_length": 4368,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001437701.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5300,
"cdna_start": 580,
"cds_end": null,
"cds_length": 4368,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866905.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
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"aa_length": 1442,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 225,
"cds_end": null,
"cds_length": 4329,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000406341.5",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383939.1",
"strand": true,
"transcript": "ENST00000406341.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 931,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4416,
"cdna_start": 151,
"cds_end": null,
"cds_length": 2796,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684055.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"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": "L",
"aa_end": null,
"aa_length": 52,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1415,
"cdna_start": 374,
"cds_end": null,
"cds_length": 159,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000468208.2",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499609.1",
"strand": true,
"transcript": "ENST00000468208.2",
"transcript_support_level": 3
},
{
"aa_alt": "L",
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"aa_length": 1493,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 574,
"cds_end": null,
"cds_length": 4482,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011533922.2",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532224.1",
"strand": true,
"transcript": "XM_011533922.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1493,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7619,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 4482,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047448473.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304429.1",
"strand": true,
"transcript": "XM_047448473.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1493,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7097,
"cdna_start": 587,
"cds_end": null,
"cds_length": 4482,
"cds_start": 35,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047448474.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304430.1",
"strand": true,
"transcript": "XM_047448474.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8069,
"cdna_start": 1559,
"cds_end": null,
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"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047448475.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304431.1",
"strand": true,
"transcript": "XM_047448475.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7058,
"cdna_start": 587,
"cds_end": null,
"cds_length": 4443,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047448479.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304435.1",
"strand": true,
"transcript": "XM_047448479.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7027,
"cdna_start": 574,
"cds_end": null,
"cds_length": 4425,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011533928.2",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532230.1",
"strand": true,
"transcript": "XM_011533928.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "S",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7040,
"cdna_start": 587,
"cds_end": null,
"cds_length": 4425,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047448481.1",
"gene_hgnc_id": 25566,
"gene_symbol": "SETD5",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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