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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: 3-183810476-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183810476&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183810476,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001351370.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4162A>G",
"hgvs_p": "p.Ile1388Val",
"transcript": "NM_018023.5",
"protein_id": "NP_060493.3",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4162,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305135.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018023.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4162A>G",
"hgvs_p": "p.Ile1388Val",
"transcript": "ENST00000305135.10",
"protein_id": "ENSP00000306983.5",
"transcript_support_level": 1,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4162,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018023.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305135.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4165A>G",
"hgvs_p": "p.Ile1389Val",
"transcript": "NM_001351370.2",
"protein_id": "NP_001338299.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1423,
"cds_start": 4165,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351370.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4165A>G",
"hgvs_p": "p.Ile1389Val",
"transcript": "ENST00000884732.1",
"protein_id": "ENSP00000554791.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1423,
"cds_start": 4165,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884732.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4165A>G",
"hgvs_p": "p.Ile1389Val",
"transcript": "ENST00000884736.1",
"protein_id": "ENSP00000554795.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1423,
"cds_start": 4165,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884736.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4165A>G",
"hgvs_p": "p.Ile1389Val",
"transcript": "ENST00000927066.1",
"protein_id": "ENSP00000597125.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1423,
"cds_start": 4165,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927066.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4162A>G",
"hgvs_p": "p.Ile1388Val",
"transcript": "NM_001351369.2",
"protein_id": "NP_001338298.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4162,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351369.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4162A>G",
"hgvs_p": "p.Ile1388Val",
"transcript": "ENST00000884734.1",
"protein_id": "ENSP00000554793.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4162,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884734.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4162A>G",
"hgvs_p": "p.Ile1388Val",
"transcript": "ENST00000884737.1",
"protein_id": "ENSP00000554796.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4162,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884737.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4162A>G",
"hgvs_p": "p.Ile1388Val",
"transcript": "ENST00000927064.1",
"protein_id": "ENSP00000597123.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4162,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927064.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4162A>G",
"hgvs_p": "p.Ile1388Val",
"transcript": "ENST00000927067.1",
"protein_id": "ENSP00000597126.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4162,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927067.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4159A>G",
"hgvs_p": "p.Ile1387Val",
"transcript": "ENST00000927062.1",
"protein_id": "ENSP00000597121.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 1421,
"cds_start": 4159,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927062.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4003A>G",
"hgvs_p": "p.Ile1335Val",
"transcript": "ENST00000927063.1",
"protein_id": "ENSP00000597122.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1369,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927063.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4003A>G",
"hgvs_p": "p.Ile1335Val",
"transcript": "ENST00000927065.1",
"protein_id": "ENSP00000597124.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1369,
"cds_start": 4003,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927065.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4000A>G",
"hgvs_p": "p.Ile1334Val",
"transcript": "ENST00000884733.1",
"protein_id": "ENSP00000554792.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1368,
"cds_start": 4000,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884733.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4000A>G",
"hgvs_p": "p.Ile1334Val",
"transcript": "ENST00000927061.1",
"protein_id": "ENSP00000597120.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1368,
"cds_start": 4000,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927061.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.3871A>G",
"hgvs_p": "p.Ile1291Val",
"transcript": "ENST00000927068.1",
"protein_id": "ENSP00000597127.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3871,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927068.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.3871A>G",
"hgvs_p": "p.Ile1291Val",
"transcript": "ENST00000941369.1",
"protein_id": "ENSP00000611428.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3871,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941369.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.3709A>G",
"hgvs_p": "p.Ile1237Val",
"transcript": "ENST00000884735.1",
"protein_id": "ENSP00000554794.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3709,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884735.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.1894A>G",
"hgvs_p": "p.Ile632Val",
"transcript": "ENST00000884738.1",
"protein_id": "ENSP00000554797.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 666,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884738.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YEATS2",
"gene_hgnc_id": 25489,
"hgvs_c": "c.4165A>G",
"hgvs_p": "p.Ile1389Val",
"transcript": "XM_005247598.6",
"protein_id": "XP_005247655.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1423,
"cds_start": 4165,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247598.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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{
"score": -8,
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"pathogenic_score": 0,
"criteria": [
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"BS2"
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"verdict": "Benign",
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"effects": [
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}