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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: 1-160349583-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160349583&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160349583,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000294785.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "NM_015331.3",
"protein_id": "NP_056146.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 709,
"cds_start": 349,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": "ENST00000294785.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "ENST00000294785.10",
"protein_id": "ENSP00000294785.5",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 709,
"cds_start": 349,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": "NM_015331.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*278C>T",
"hgvs_p": null,
"transcript": "ENST00000368063.6",
"protein_id": "ENSP00000357042.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*278C>T",
"hgvs_p": null,
"transcript": "ENST00000368063.6",
"protein_id": "ENSP00000357042.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97*",
"transcript": "NM_001290184.2",
"protein_id": "NP_001277113.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 689,
"cds_start": 289,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "ENST00000699538.1",
"protein_id": "ENSP00000514423.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 674,
"cds_start": 349,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82*",
"transcript": "ENST00000699553.1",
"protein_id": "ENSP00000514430.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 674,
"cds_start": 244,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "NM_001349729.2",
"protein_id": "NP_001336658.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 638,
"cds_start": 349,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "ENST00000699546.1",
"protein_id": "ENSP00000514428.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 622,
"cds_start": 349,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "NM_001290186.2",
"protein_id": "NP_001277115.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 571,
"cds_start": 349,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "ENST00000699528.1",
"protein_id": "ENSP00000514420.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 571,
"cds_start": 349,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "ENST00000699549.1",
"protein_id": "ENSP00000514429.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 571,
"cds_start": 349,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "ENST00000421914.6",
"protein_id": "ENSP00000390409.2",
"transcript_support_level": 4,
"aa_start": 117,
"aa_end": null,
"aa_length": 500,
"cds_start": 349,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Arg150*",
"transcript": "ENST00000438008.5",
"protein_id": "ENSP00000389370.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 231,
"cds_start": 448,
"cds_end": null,
"cds_length": 696,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*",
"transcript": "XM_005245053.6",
"protein_id": "XP_005245110.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 395,
"cds_start": 349,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.349C>T",
"hgvs_p": null,
"transcript": "ENST00000459963.6",
"protein_id": "ENSP00000493689.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*318C>T",
"hgvs_p": null,
"transcript": "ENST00000467837.5",
"protein_id": "ENSP00000495179.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.405C>T",
"hgvs_p": null,
"transcript": "ENST00000491332.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.452C>T",
"hgvs_p": null,
"transcript": "ENST00000699526.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.349C>T",
"hgvs_p": null,
"transcript": "ENST00000699527.1",
"protein_id": "ENSP00000514419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.430C>T",
"hgvs_p": null,
"transcript": "ENST00000699529.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.349C>T",
"hgvs_p": null,
"transcript": "ENST00000699530.1",
"protein_id": "ENSP00000514421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.430C>T",
"hgvs_p": null,
"transcript": "ENST00000699531.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
"inheritance_mode": "AD",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117*"
}
],
"clinvar_disease": " 1, familial,Acne inversa",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Acne inversa, familial, 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}