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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: 16-3657746-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3657746&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3657746,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001387139.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "NM_005223.4",
"protein_id": "NP_005214.2",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000246949.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005223.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "ENST00000246949.10",
"protein_id": "ENSP00000246949.5",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005223.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246949.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "ENST00000407479.5",
"protein_id": "ENSP00000385905.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407479.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "NM_001387139.1",
"protein_id": "NP_001374068.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 305,
"cds_start": 800,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387139.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "NM_001351825.2",
"protein_id": "NP_001338754.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351825.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "NM_001387135.1",
"protein_id": "NP_001374064.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387135.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "NM_001387140.1",
"protein_id": "NP_001374069.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 276,
"cds_start": 731,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387140.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "NM_001387141.1",
"protein_id": "NP_001374070.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 213,
"cds_start": 524,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387141.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40Gln",
"transcript": "ENST00000576792.1",
"protein_id": "ENSP00000461129.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 72,
"cds_start": 119,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576792.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000575479.1",
"protein_id": "ENSP00000461153.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 64,
"cds_start": 95,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575479.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "XM_047433675.1",
"protein_id": "XP_047289631.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433675.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "XM_047433676.1",
"protein_id": "XP_047289632.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433676.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "XM_047433677.1",
"protein_id": "XP_047289633.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 731,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433677.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "XM_024450170.2",
"protein_id": "XP_024305938.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 276,
"cds_start": 731,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450170.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Gln",
"transcript": "XM_047433678.1",
"protein_id": "XP_047289634.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 257,
"cds_start": 656,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433678.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "XM_047433679.1",
"protein_id": "XP_047289635.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 213,
"cds_start": 524,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433679.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_047433682.1",
"protein_id": "XP_047289638.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 165,
"cds_start": 380,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433682.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"transcript": "XM_047433683.1",
"protein_id": "XP_047289639.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 165,
"cds_start": 380,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*63G>A",
"hgvs_p": null,
"transcript": "XM_047433680.1",
"protein_id": "XP_047289636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.312-44G>A",
"hgvs_p": null,
"transcript": "ENST00000570664.1",
"protein_id": "ENSP00000459507.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.*574G>A",
"hgvs_p": null,
"transcript": "ENST00000570769.5",
"protein_id": "ENSP00000458467.1",
"transcript_support_level": 5,
"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": "ENST00000570769.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.*241G>A",
"hgvs_p": null,
"transcript": "ENST00000570807.5",
"protein_id": "ENSP00000458959.1",
"transcript_support_level": 5,
"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": "ENST00000570807.5"
},
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"verdict": "Benign",
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"inheritance_mode": "AD,Unknown",
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],
"clinvar_disease": " susceptibility to,DNASE1-related disorder,Systemic lupus erythematosus,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Systemic lupus erythematosus, susceptibility to|DNASE1-related disorder|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}