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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: 1-160354238-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160354238&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160354238,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000294785.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.1300C>G",
"hgvs_p": "p.Arg434Gly",
"transcript": "NM_015331.3",
"protein_id": "NP_056146.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 709,
"cds_start": 1300,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": "ENST00000294785.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.1300C>G",
"hgvs_p": "p.Arg434Gly",
"transcript": "ENST00000294785.10",
"protein_id": "ENSP00000294785.5",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 709,
"cds_start": 1300,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1314,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*1229C>G",
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*1229C>G",
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.1240C>G",
"hgvs_p": "p.Arg414Gly",
"transcript": "NM_001290184.2",
"protein_id": "NP_001277113.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 689,
"cds_start": 1240,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "ENST00000699538.1",
"protein_id": "ENSP00000514423.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 674,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "ENST00000699553.1",
"protein_id": "ENSP00000514430.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 674,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.1300C>G",
"hgvs_p": "p.Arg434Gly",
"transcript": "NM_001349729.2",
"protein_id": "NP_001336658.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 638,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.1039C>G",
"hgvs_p": "p.Arg347Gly",
"transcript": "ENST00000699546.1",
"protein_id": "ENSP00000514428.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 622,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.886C>G",
"hgvs_p": "p.Arg296Gly",
"transcript": "NM_001290186.2",
"protein_id": "NP_001277115.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 571,
"cds_start": 886,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.1300C>G",
"hgvs_p": "p.Arg434Gly",
"transcript": "ENST00000699528.1",
"protein_id": "ENSP00000514420.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 571,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.886C>G",
"hgvs_p": "p.Arg296Gly",
"transcript": "ENST00000699549.1",
"protein_id": "ENSP00000514429.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 571,
"cds_start": 886,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.886C>G",
"hgvs_p": "p.Arg296Gly",
"transcript": "ENST00000421914.6",
"protein_id": "ENSP00000390409.2",
"transcript_support_level": 4,
"aa_start": 296,
"aa_end": null,
"aa_length": 500,
"cds_start": 886,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Arg266Gly",
"transcript": "ENST00000424645.6",
"protein_id": "ENSP00000388118.2",
"transcript_support_level": 5,
"aa_start": 266,
"aa_end": null,
"aa_length": 314,
"cds_start": 796,
"cds_end": null,
"cds_length": 947,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly",
"transcript": "ENST00000435149.1",
"protein_id": "ENSP00000407849.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 273,
"cds_start": 328,
"cds_end": null,
"cds_length": 822,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Arg178Gly",
"transcript": "ENST00000424754.5",
"protein_id": "ENSP00000410124.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 218,
"cds_start": 532,
"cds_end": null,
"cds_length": 659,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 659,
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*698C>G",
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.102C>G",
"hgvs_p": null,
"transcript": "ENST00000491390.2",
"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": 2626,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.2283C>G",
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*291C>G",
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.1629C>G",
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*733C>G",
"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": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.1381C>G",
"hgvs_p": null,
"transcript": "ENST00000699531.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"computational_prediction_selected": "Uncertain_significance",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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"hgvs_p": "p.Arg434Gly"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}