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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: 11-134168111-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=134168111&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 134168111,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000534548.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3458A>C",
"hgvs_p": "p.Glu1153Ala",
"transcript": "NM_015261.3",
"protein_id": "NP_056076.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1498,
"cds_start": 3458,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 7369,
"mane_select": "ENST00000534548.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3458A>C",
"hgvs_p": "p.Glu1153Ala",
"transcript": "ENST00000534548.7",
"protein_id": "ENSP00000433681.3",
"transcript_support_level": 1,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1498,
"cds_start": 3458,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 7369,
"mane_select": "NM_015261.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*1100A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*1100A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3458A>C",
"hgvs_p": "p.Glu1153Ala",
"transcript": "ENST00000685324.1",
"protein_id": "ENSP00000508707.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1498,
"cds_start": 3458,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 3796,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3458A>C",
"hgvs_p": "p.Glu1153Ala",
"transcript": "ENST00000688672.1",
"protein_id": "ENSP00000510391.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1498,
"cds_start": 3458,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 6055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3458A>C",
"hgvs_p": "p.Glu1153Ala",
"transcript": "NM_001372068.1",
"protein_id": "NP_001358997.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3458,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3458A>C",
"hgvs_p": "p.Glu1153Ala",
"transcript": "ENST00000688263.1",
"protein_id": "ENSP00000510008.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3458,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 4077,
"cdna_end": null,
"cdna_length": 5562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3458A>C",
"hgvs_p": "p.Glu1153Ala",
"transcript": "NM_001372065.1",
"protein_id": "NP_001358994.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1466,
"cds_start": 3458,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3044A>C",
"hgvs_p": "p.Glu1015Ala",
"transcript": "NM_001372069.1",
"protein_id": "NP_001358998.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3044,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3336,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "c.3044A>C",
"hgvs_p": "p.Glu1015Ala",
"transcript": "NM_001372070.1",
"protein_id": "NP_001358999.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3044,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3998,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.3479A>C",
"hgvs_p": null,
"transcript": "ENST00000525432.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.83A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.899A>C",
"hgvs_p": null,
"transcript": "ENST00000530396.2",
"protein_id": "ENSP00000435173.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*129A>C",
"hgvs_p": null,
"transcript": "ENST00000534532.7",
"protein_id": "ENSP00000434168.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.3518A>C",
"hgvs_p": null,
"transcript": "ENST00000687155.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.4112A>C",
"hgvs_p": null,
"transcript": "ENST00000687480.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.483A>C",
"hgvs_p": null,
"transcript": "ENST00000688834.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*3160A>C",
"hgvs_p": null,
"transcript": "ENST00000689205.1",
"protein_id": "ENSP00000510550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*1816A>C",
"hgvs_p": null,
"transcript": "ENST00000689387.1",
"protein_id": "ENSP00000509764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*2817A>C",
"hgvs_p": null,
"transcript": "ENST00000690149.1",
"protein_id": "ENSP00000508431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.*3067A>C",
"hgvs_p": null,
"transcript": "ENST00000690743.1",
"protein_id": "ENSP00000508701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPD3",
"gene_hgnc_id": 28952,
"hgvs_c": "n.3500A>C",
"hgvs_p": null,
"transcript": "ENST00000692494.1",
"protein_id": null,
"transcript_support_level": null,
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}
],
"gene_symbol": "NCAPD3",
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"dbsnp": "rs1350194762",
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.646,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.754,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
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"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.3458A>C",
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],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 22",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Microcephaly 22, primary, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}