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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: 2-233434477-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233434477&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233434477,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152879.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "NM_152879.3",
"protein_id": "NP_690618.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1214,
"cds_start": 446,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": "ENST00000264057.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152879.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "ENST00000264057.7",
"protein_id": "ENSP00000264057.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 1214,
"cds_start": 446,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": "NM_152879.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264057.7"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.His105Pro",
"transcript": "ENST00000409813.7",
"protein_id": "ENSP00000386455.3",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 1170,
"cds_start": 314,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 6228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409813.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "n.279A>C",
"hgvs_p": null,
"transcript": "ENST00000490764.5",
"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": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490764.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "ENST00000963810.1",
"protein_id": "ENSP00000633869.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1293,
"cds_start": 446,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963810.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.His198Pro",
"transcript": "ENST00000963809.1",
"protein_id": "ENSP00000633868.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1263,
"cds_start": 593,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963809.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "ENST00000916439.1",
"protein_id": "ENSP00000586498.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1215,
"cds_start": 446,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 6299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916439.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "ENST00000963807.1",
"protein_id": "ENSP00000633866.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1202,
"cds_start": 446,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963807.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "ENST00000963811.1",
"protein_id": "ENSP00000633870.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1197,
"cds_start": 446,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963811.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.335A>C",
"hgvs_p": "p.His112Pro",
"transcript": "ENST00000916440.1",
"protein_id": "ENSP00000586499.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1177,
"cds_start": 335,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916440.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.314A>C",
"hgvs_p": "p.His105Pro",
"transcript": "NM_003648.3",
"protein_id": "NP_003639.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1170,
"cds_start": 314,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003648.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "ENST00000877255.1",
"protein_id": "ENSP00000547314.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1164,
"cds_start": 446,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877255.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "ENST00000963806.1",
"protein_id": "ENSP00000633865.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1154,
"cds_start": 446,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963806.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "ENST00000963808.1",
"protein_id": "ENSP00000633867.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1131,
"cds_start": 446,
"cds_end": null,
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"cdna_start": 456,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963808.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.47A>C",
"hgvs_p": "p.His16Pro",
"transcript": "NM_001377259.1",
"protein_id": "NP_001364188.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1081,
"cds_start": 47,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 6145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377259.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.356A>C",
"hgvs_p": "p.His119Pro",
"transcript": "ENST00000447484.5",
"protein_id": "ENSP00000395530.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 163,
"cds_start": 356,
"cds_end": null,
"cds_length": 494,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447484.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.254A>C",
"hgvs_p": "p.His85Pro",
"transcript": "ENST00000427930.5",
"protein_id": "ENSP00000407938.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 156,
"cds_start": 254,
"cds_end": null,
"cds_length": 471,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427930.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.His149Pro",
"transcript": "XM_047446097.1",
"protein_id": "XP_047302053.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1187,
"cds_start": 446,
"cds_end": null,
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"cdna_start": 471,
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"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446097.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.326A>C",
"hgvs_p": "p.His109Pro",
"transcript": "XM_011512028.4",
"protein_id": "XP_011510330.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1174,
"cds_start": 326,
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"cdna_start": 513,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512028.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.326A>C",
"hgvs_p": "p.His109Pro",
"transcript": "XM_017005138.3",
"protein_id": "XP_016860627.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1174,
"cds_start": 326,
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"cdna_start": 820,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005138.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.317A>C",
"hgvs_p": "p.His106Pro",
"transcript": "XM_011512030.3",
"protein_id": "XP_011510332.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1171,
"cds_start": 317,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512030.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.272A>C",
"hgvs_p": "p.His91Pro",
"transcript": "XM_011512031.4",
"protein_id": "XP_011510333.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 1156,
"cds_start": 272,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 6235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512031.4"
},
{
"aa_ref": "H",
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
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{
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"pathogenic_score": 2,
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"BP4_Strong"
],
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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
}