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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: 12-24832804-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=24832804&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 24832804,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001413086.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Glu321Glu",
"transcript": "NM_005504.7",
"protein_id": "NP_005495.2",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 386,
"cds_start": 963,
"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": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Glu321Glu",
"transcript": "ENST00000261192.12",
"protein_id": "ENSP00000261192.7",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 386,
"cds_start": 963,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.960G>A",
"hgvs_p": "p.Glu320Glu",
"transcript": "ENST00000538118.5",
"protein_id": "ENSP00000440817.1",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 385,
"cds_start": 960,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.999G>A",
"hgvs_p": "p.Glu333Glu",
"transcript": "NM_001413086.1",
"protein_id": "NP_001400015.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 415,
"cds_start": 999,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.1035G>A",
"hgvs_p": "p.Glu345Glu",
"transcript": "NM_001413087.1",
"protein_id": "NP_001400016.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 410,
"cds_start": 1035,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.1026G>A",
"hgvs_p": "p.Glu342Glu",
"transcript": "NM_001413088.1",
"protein_id": "NP_001400017.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 407,
"cds_start": 1026,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Glu336Glu",
"transcript": "NM_001413089.1",
"protein_id": "NP_001400018.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 401,
"cds_start": 1008,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Glu333Glu",
"transcript": "NM_001178093.2",
"protein_id": "NP_001171564.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 398,
"cds_start": 999,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Glu333Glu",
"transcript": "ENST00000539282.5",
"protein_id": "ENSP00000443459.1",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 398,
"cds_start": 999,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Glu332Glu",
"transcript": "NM_001413090.1",
"protein_id": "NP_001400019.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 397,
"cds_start": 996,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Glu330Glu",
"transcript": "ENST00000905147.1",
"protein_id": "ENSP00000575206.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 395,
"cds_start": 990,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Glu329Glu",
"transcript": "NM_001413091.1",
"protein_id": "NP_001400020.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 394,
"cds_start": 987,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.960G>A",
"hgvs_p": "p.Glu320Glu",
"transcript": "NM_001178094.2",
"protein_id": "NP_001171565.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 385,
"cds_start": 960,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.960G>A",
"hgvs_p": "p.Glu320Glu",
"transcript": "ENST00000916642.1",
"protein_id": "ENSP00000586701.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 385,
"cds_start": 960,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.957G>A",
"hgvs_p": "p.Glu319Glu",
"transcript": "NM_001413092.1",
"protein_id": "NP_001400021.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 384,
"cds_start": 957,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Glu308Glu",
"transcript": "ENST00000916644.1",
"protein_id": "ENSP00000586703.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 373,
"cds_start": 924,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT1",
"gene_hgnc_id": 976,
"hgvs_c": "c.921G>A",
"hgvs_p": "p.Glu307Glu",
"transcript": "NM_001413093.1",
"protein_id": "NP_001400022.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 372,
"cds_start": 921,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.891G>A",
"hgvs_p": "p.Glu297Glu",
"transcript": "NM_001413094.1",
"protein_id": "NP_001400023.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 362,
"cds_start": 891,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.888G>A",
"hgvs_p": "p.Glu296Glu",
"transcript": "NM_001413095.1",
"protein_id": "NP_001400024.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 361,
"cds_start": 888,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.852G>A",
"hgvs_p": "p.Glu284Glu",
"transcript": "NM_001178091.2",
"protein_id": "NP_001171562.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 349,
"cds_start": 852,
"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"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.852G>A",
"hgvs_p": "p.Glu284Glu",
"transcript": "ENST00000539780.5",
"protein_id": "ENSP00000440827.1",
"transcript_support_level": 2,
"aa_start": 284,
"aa_end": null,
"aa_length": 349,
"cds_start": 852,
"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": "ENST00000539780.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.843G>A",
"hgvs_p": "p.Glu281Glu",
"transcript": "ENST00000916648.1",
"protein_id": "ENSP00000586707.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 346,
"cds_start": 843,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916648.1"
},
{
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"splice_prediction_selected": "Benign",
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{
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"pathogenic_score": 2,
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}