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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: 11-134153281-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=134153281&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 134153281,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_015261.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4327+8C>A",
"hgvs_p": null,
"transcript": "NM_015261.3",
"protein_id": "NP_056076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1498,
"cds_start": null,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000534548.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015261.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4327+8C>A",
"hgvs_p": null,
"transcript": "ENST00000534548.7",
"protein_id": "ENSP00000433681.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1498,
"cds_start": null,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015261.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534548.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*1969+8C>A",
"hgvs_p": null,
"transcript": "ENST00000525964.7",
"protein_id": "ENSP00000431612.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000525964.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4327+8C>A",
"hgvs_p": null,
"transcript": "ENST00000685324.1",
"protein_id": "ENSP00000508707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1498,
"cds_start": null,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4327+8C>A",
"hgvs_p": null,
"transcript": "ENST00000688672.1",
"protein_id": "ENSP00000510391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1498,
"cds_start": null,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4324+8C>A",
"hgvs_p": null,
"transcript": "ENST00000957781.1",
"protein_id": "ENSP00000627840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1497,
"cds_start": null,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4312+8C>A",
"hgvs_p": null,
"transcript": "ENST00000957782.1",
"protein_id": "ENSP00000627841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1493,
"cds_start": null,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4327+8C>A",
"hgvs_p": null,
"transcript": "NM_001372068.1",
"protein_id": "NP_001358997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1484,
"cds_start": null,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4327+8C>A",
"hgvs_p": null,
"transcript": "ENST00000688263.1",
"protein_id": "ENSP00000510008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1484,
"cds_start": null,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4261+8C>A",
"hgvs_p": null,
"transcript": "ENST00000912041.1",
"protein_id": "ENSP00000582100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1476,
"cds_start": null,
"cds_end": null,
"cds_length": 4431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4327+8C>A",
"hgvs_p": null,
"transcript": "NM_001372065.1",
"protein_id": "NP_001358994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1466,
"cds_start": null,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4156+8C>A",
"hgvs_p": null,
"transcript": "ENST00000957779.1",
"protein_id": "ENSP00000627838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1441,
"cds_start": null,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.4009+8C>A",
"hgvs_p": null,
"transcript": "ENST00000957780.1",
"protein_id": "ENSP00000627839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1392,
"cds_start": null,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957780.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3979+8C>A",
"hgvs_p": null,
"transcript": "ENST00000912040.1",
"protein_id": "ENSP00000582099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1382,
"cds_start": null,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3913+8C>A",
"hgvs_p": null,
"transcript": "NM_001372069.1",
"protein_id": "NP_001358998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
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"cds_length": 4083,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3913+8C>A",
"hgvs_p": null,
"transcript": "NM_001372070.1",
"protein_id": "NP_001358999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.379+8C>A",
"hgvs_p": null,
"transcript": "ENST00000691025.1",
"protein_id": "ENSP00000509988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.292+8C>A",
"hgvs_p": null,
"transcript": "ENST00000686368.1",
"protein_id": "ENSP00000509165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
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"cds_length": 411,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.292+8C>A",
"hgvs_p": null,
"transcript": "ENST00000526787.3",
"protein_id": "ENSP00000509095.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526787.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.7657+8C>A",
"hgvs_p": null,
"transcript": "ENST00000525432.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000525432.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*62+8C>A",
"hgvs_p": null,
"transcript": "ENST00000527944.2",
"protein_id": "ENSP00000432532.2",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000527944.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*241+8C>A",
"hgvs_p": null,
"transcript": "ENST00000530396.2",
"protein_id": "ENSP00000435173.2",
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],
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"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.07,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015261.3",
"gene_symbol": "NCAPD3",
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"effects": [
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"intron_variant"
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}
],
"clinvar_disease": "NCAPD3-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NCAPD3-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}