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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: 12-24836522-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=24836522&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 24836522,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001413086.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Ala298Thr",
"transcript": "NM_005504.7",
"protein_id": "NP_005495.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 386,
"cds_start": 892,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261192.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005504.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Ala298Thr",
"transcript": "ENST00000261192.12",
"protein_id": "ENSP00000261192.7",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 386,
"cds_start": 892,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005504.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261192.12"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Ala297Thr",
"transcript": "ENST00000538118.5",
"protein_id": "ENSP00000440817.1",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 385,
"cds_start": 889,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538118.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "n.1312G>A",
"hgvs_p": null,
"transcript": "ENST00000544418.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000544418.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Ala310Thr",
"transcript": "NM_001413086.1",
"protein_id": "NP_001400015.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 415,
"cds_start": 928,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413086.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001413087.1",
"protein_id": "NP_001400016.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 410,
"cds_start": 964,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413087.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Ala319Thr",
"transcript": "NM_001413088.1",
"protein_id": "NP_001400017.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 407,
"cds_start": 955,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413088.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Ala313Thr",
"transcript": "NM_001413089.1",
"protein_id": "NP_001400018.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 401,
"cds_start": 937,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413089.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Ala310Thr",
"transcript": "NM_001178093.2",
"protein_id": "NP_001171564.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 928,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178093.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Ala310Thr",
"transcript": "ENST00000539282.5",
"protein_id": "ENSP00000443459.1",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 928,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539282.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Ala309Thr",
"transcript": "NM_001413090.1",
"protein_id": "NP_001400019.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 397,
"cds_start": 925,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413090.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Ala307Thr",
"transcript": "ENST00000905147.1",
"protein_id": "ENSP00000575206.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 395,
"cds_start": 919,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905147.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Ala306Thr",
"transcript": "NM_001413091.1",
"protein_id": "NP_001400020.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 394,
"cds_start": 916,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413091.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Ala297Thr",
"transcript": "NM_001178094.2",
"protein_id": "NP_001171565.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 385,
"cds_start": 889,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178094.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Ala297Thr",
"transcript": "ENST00000916642.1",
"protein_id": "ENSP00000586701.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 385,
"cds_start": 889,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916642.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Ala296Thr",
"transcript": "NM_001413092.1",
"protein_id": "NP_001400021.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 384,
"cds_start": 886,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413092.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "ENST00000916644.1",
"protein_id": "ENSP00000586703.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 373,
"cds_start": 853,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916644.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Ala284Thr",
"transcript": "NM_001413093.1",
"protein_id": "NP_001400022.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 372,
"cds_start": 850,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413093.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Ala274Thr",
"transcript": "NM_001413094.1",
"protein_id": "NP_001400023.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 362,
"cds_start": 820,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413094.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Ala273Thr",
"transcript": "NM_001413095.1",
"protein_id": "NP_001400024.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 361,
"cds_start": 817,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413095.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Ala310Thr",
"transcript": "NM_001413096.1",
"protein_id": "NP_001400025.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 351,
"cds_start": 928,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413096.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Ala261Thr",
"transcript": "NM_001178091.2",
"protein_id": "NP_001171562.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 349,
"cds_start": 781,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178091.2"
},
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001413086.1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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"criteria": [
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"effects": [
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],
"inheritance_mode": "",
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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
}