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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: X-71290741-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71290741&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71290741,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007363.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "NM_007363.5",
"protein_id": "NP_031389.3",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "ENST00000276079.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007363.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000276079.13",
"protein_id": "ENSP00000276079.8",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "NM_007363.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276079.13"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000373856.8",
"protein_id": "ENSP00000362963.4",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 515,
"cds_start": 104,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373856.8"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000373841.5",
"protein_id": "ENSP00000362947.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373841.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000678830.1",
"protein_id": "ENSP00000504263.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 501,
"cds_start": 104,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678830.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000936531.1",
"protein_id": "ENSP00000606590.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 501,
"cds_start": 104,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936531.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000959800.1",
"protein_id": "ENSP00000629859.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 479,
"cds_start": 104,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959800.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000678660.1",
"protein_id": "ENSP00000504665.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 476,
"cds_start": 104,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678660.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000861758.1",
"protein_id": "ENSP00000531817.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 476,
"cds_start": 104,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861758.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "NM_001145408.2",
"protein_id": "NP_001138880.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145408.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "NM_001145409.2",
"protein_id": "NP_001138881.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145409.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000420903.6",
"protein_id": "ENSP00000410299.2",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420903.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000450092.6",
"protein_id": "ENSP00000415777.2",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450092.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000454976.2",
"protein_id": "ENSP00000406673.2",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454976.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000677274.1",
"protein_id": "ENSP00000504314.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677274.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000677446.1",
"protein_id": "ENSP00000503031.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677446.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000677612.1",
"protein_id": "ENSP00000504351.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677612.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000678231.1",
"protein_id": "ENSP00000503233.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678231.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000861754.1",
"protein_id": "ENSP00000531813.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861754.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000861756.1",
"protein_id": "ENSP00000531815.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861756.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000861757.1",
"protein_id": "ENSP00000531816.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861757.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NONO",
"gene_hgnc_id": 7871,
"hgvs_c": "c.104A>C",
"hgvs_p": "p.Gln35Pro",
"transcript": "ENST00000936524.1",
"protein_id": "ENSP00000606583.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 471,
"cds_start": 104,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936524.1"
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}