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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: 16-1335649-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1335649&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1335649,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_003933.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "NM_001199097.2",
"protein_id": "NP_001186026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426824.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199097.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000426824.8",
"protein_id": "ENSP00000407242.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199097.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426824.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.95+893A>T",
"hgvs_p": null,
"transcript": "ENST00000324385.9",
"protein_id": "ENSP00000324510.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": null,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324385.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000397488.6",
"protein_id": "ENSP00000380625.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": null,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397488.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.95+893A>T",
"hgvs_p": null,
"transcript": "NM_003933.5",
"protein_id": "NP_003924.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": null,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003933.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "NM_001286464.2",
"protein_id": "NP_001273393.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": null,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286464.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+893A>T",
"hgvs_p": null,
"transcript": "ENST00000956656.1",
"protein_id": "ENSP00000626715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": null,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-331-430A>T",
"hgvs_p": null,
"transcript": "ENST00000858415.1",
"protein_id": "ENSP00000528474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000711105.1",
"protein_id": "ENSP00000518584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1131,
"cds_start": null,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711105.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "NM_001199098.2",
"protein_id": "NP_001186027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": null,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199098.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000562208.5",
"protein_id": "ENSP00000458134.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": null,
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"cds_length": 3390,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562208.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
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"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "NM_001199099.2",
"protein_id": "NP_001186028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": null,
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"cds_length": 3375,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199099.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000568887.5",
"protein_id": "ENSP00000457644.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 1124,
"cds_start": null,
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"cds_length": 3375,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568887.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000858414.1",
"protein_id": "ENSP00000528473.1",
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"biotype": "protein_coding",
"feature": "ENST00000858414.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000858416.1",
"protein_id": "ENSP00000528475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1116,
"cds_start": null,
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"cds_length": 3351,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858416.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000711102.1",
"protein_id": "ENSP00000518580.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000711102.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.95+893A>T",
"hgvs_p": null,
"transcript": "XM_011522728.2",
"protein_id": "XP_011521030.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522728.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.95+893A>T",
"hgvs_p": null,
"transcript": "XM_011522729.2",
"protein_id": "XP_011521031.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"feature": "XM_011522729.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.95+893A>T",
"hgvs_p": null,
"transcript": "XM_011522730.3",
"protein_id": "XP_011521032.1",
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"biotype": "protein_coding",
"feature": "XM_011522730.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "n.-11+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000564213.2",
"protein_id": "ENSP00000518583.1",
"transcript_support_level": 3,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000564213.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "n.112+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000565665.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565665.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "n.105+1900A>T",
"hgvs_p": null,
"transcript": "ENST00000567203.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567203.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
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{
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{
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{
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],
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"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.9,
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003933.5",
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"effects": [
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"inheritance_mode": "AR",
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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
}