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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: 18-70127546-ACA-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=70127546&ref=ACA&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RTTN",
"hgnc_id": 18654,
"hgvs_c": "c.3337_3339delTGTinsCGC",
"hgvs_p": "p.Cys1113Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_173630.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2226,
"aa_ref": "C",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7830,
"cdna_start": 3368,
"cds_end": null,
"cds_length": 6681,
"cds_start": 3337,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_173630.4",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3337_3339delTGTinsCGC",
"hgvs_p": "p.Cys1113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000640769.2",
"protein_coding": true,
"protein_id": "NP_775901.3",
"strand": false,
"transcript": "NM_173630.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2226,
"aa_ref": "C",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7830,
"cdna_start": 3368,
"cds_end": null,
"cds_length": 6681,
"cds_start": 3337,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640769.2",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3337_3339delTGTinsCGC",
"hgvs_p": "p.Cys1113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173630.4",
"protein_coding": true,
"protein_id": "ENSP00000491507.1",
"strand": false,
"transcript": "ENST00000640769.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000581161.5",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "n.*1651_*1653delTGTinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462926.1",
"strand": false,
"transcript": "ENST00000581161.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6278,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 43,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000583043.5",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "n.*608_*610delTGTinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462733.1",
"strand": false,
"transcript": "ENST00000583043.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 48,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000581161.5",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "n.*1651_*1653delTGTinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462926.1",
"strand": false,
"transcript": "ENST00000581161.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6278,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 43,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000583043.5",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "n.*608_*610delTGTinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462733.1",
"strand": false,
"transcript": "ENST00000583043.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2233,
"aa_ref": "C",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7419,
"cdna_start": 3709,
"cds_end": null,
"cds_length": 6702,
"cds_start": 3337,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917940.1",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3337_3339delTGTinsCGC",
"hgvs_p": "p.Cys1113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587999.1",
"strand": false,
"transcript": "ENST00000917940.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2227,
"aa_ref": "C",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7054,
"cdna_start": 3375,
"cds_end": null,
"cds_length": 6684,
"cds_start": 3340,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917941.1",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3340_3342delTGTinsCGC",
"hgvs_p": "p.Cys1114Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588000.1",
"strand": false,
"transcript": "ENST00000917941.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2200,
"aa_ref": "C",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6960,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 6603,
"cds_start": 3337,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000255674.11",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3337_3339delTGTinsCGC",
"hgvs_p": "p.Cys1113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000255674.7",
"strand": false,
"transcript": "ENST00000255674.11",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "C",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7647,
"cdna_start": 3185,
"cds_end": null,
"cds_length": 3945,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318520.2",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.601_603delTGTinsCGC",
"hgvs_p": "p.Cys201Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305449.1",
"strand": false,
"transcript": "NM_001318520.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 296,
"aa_ref": "C",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 892,
"cdna_start": 328,
"cds_end": null,
"cds_length": 891,
"cds_start": 325,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638298.1",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.325_327delTGTinsCGC",
"hgvs_p": "p.Cys109Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492180.1",
"strand": false,
"transcript": "ENST00000638298.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2227,
"aa_ref": "C",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7833,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 6684,
"cds_start": 3340,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722434.4",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3340_3342delTGTinsCGC",
"hgvs_p": "p.Cys1114Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722497.1",
"strand": false,
"transcript": "XM_006722434.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2059,
"aa_ref": "C",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8425,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 6180,
"cds_start": 3340,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722435.4",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3340_3342delTGTinsCGC",
"hgvs_p": "p.Cys1114Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722498.1",
"strand": false,
"transcript": "XM_006722435.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2013,
"aa_ref": "C",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7427,
"cdna_start": 2965,
"cds_end": null,
"cds_length": 6042,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025694.2",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.2698_2700delTGTinsCGC",
"hgvs_p": "p.Cys900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881183.1",
"strand": false,
"transcript": "XM_017025694.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1990,
"aa_ref": "C",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7616,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 5973,
"cds_start": 3340,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525904.4",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3340_3342delTGTinsCGC",
"hgvs_p": "p.Cys1114Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524206.1",
"strand": false,
"transcript": "XM_011525904.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1872,
"aa_ref": "C",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6865,
"cdna_start": 2403,
"cds_end": null,
"cds_length": 5619,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025695.2",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.2275_2277delTGTinsCGC",
"hgvs_p": "p.Cys759Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881184.1",
"strand": false,
"transcript": "XM_017025695.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1777,
"aa_ref": "C",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5449,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 5334,
"cds_start": 3340,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525905.3",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3340_3342delTGTinsCGC",
"hgvs_p": "p.Cys1114Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524207.1",
"strand": false,
"transcript": "XM_011525905.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1727,
"aa_ref": "C",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6558,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 5184,
"cds_start": 1840,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525906.3",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.1840_1842delTGTinsCGC",
"hgvs_p": "p.Cys614Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524208.1",
"strand": false,
"transcript": "XM_011525906.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1597,
"aa_ref": "C",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4941,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 4794,
"cds_start": 3340,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525907.3",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3340_3342delTGTinsCGC",
"hgvs_p": "p.Cys1114Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524209.1",
"strand": false,
"transcript": "XM_011525907.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "C",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 3368,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3337,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437469.1",
"gene_hgnc_id": 18654,
"gene_symbol": "RTTN",
"hgvs_c": "c.3337_3339delTGTinsCGC",
"hgvs_p": "p.Cys1113Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293425.1",
"strand": false,
"transcript": "XM_047437469.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "C",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3780,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 3639,
"cds_start": 3340,
"consequences": [
"missense_variant"
],
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