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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: 11-83786734-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83786734&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 83786734,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001142699.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1781G>C",
"hgvs_p": "p.Gly594Ala",
"transcript": "NM_001142699.3",
"protein_id": "NP_001136171.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 975,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": "ENST00000376104.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1781G>C",
"hgvs_p": "p.Gly594Ala",
"transcript": "ENST00000376104.7",
"protein_id": "ENSP00000365272.2",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 975,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": "NM_001142699.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1466G>C",
"hgvs_p": "p.Gly489Ala",
"transcript": "ENST00000398309.6",
"protein_id": "ENSP00000381355.2",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 870,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 7890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1466G>C",
"hgvs_p": "p.Gly489Ala",
"transcript": "ENST00000532653.5",
"protein_id": "ENSP00000435849.1",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 852,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 2891,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "n.1744G>C",
"hgvs_p": null,
"transcript": "ENST00000529111.5",
"protein_id": null,
"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": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1892G>C",
"hgvs_p": "p.Gly631Ala",
"transcript": "ENST00000650630.1",
"protein_id": "ENSP00000497771.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1892,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1817G>C",
"hgvs_p": "p.Gly606Ala",
"transcript": "NM_001351274.2",
"protein_id": "NP_001338203.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 969,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 8537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1817G>C",
"hgvs_p": "p.Gly606Ala",
"transcript": "ENST00000706226.1",
"protein_id": "ENSP00000516284.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 969,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1814G>C",
"hgvs_p": "p.Gly605Ala",
"transcript": "NM_001351275.2",
"protein_id": "NP_001338204.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 968,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 3570,
"cdna_end": null,
"cdna_length": 9469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1814G>C",
"hgvs_p": "p.Gly605Ala",
"transcript": "ENST00000706233.1",
"protein_id": "ENSP00000516288.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 968,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 9410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1583G>C",
"hgvs_p": "p.Gly528Ala",
"transcript": "NM_001206769.2",
"protein_id": "NP_001193698.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 909,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 7728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1583G>C",
"hgvs_p": "p.Gly528Ala",
"transcript": "ENST00000280241.12",
"protein_id": "ENSP00000280241.8",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 909,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1583G>C",
"hgvs_p": "p.Gly528Ala",
"transcript": "NM_001377966.1",
"protein_id": "NP_001364895.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 903,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1583G>C",
"hgvs_p": "p.Gly528Ala",
"transcript": "NM_001377967.1",
"protein_id": "NP_001364896.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 891,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 7674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1583G>C",
"hgvs_p": "p.Gly528Ala",
"transcript": "ENST00000706243.1",
"protein_id": "ENSP00000516291.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 891,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1526G>C",
"hgvs_p": "p.Gly509Ala",
"transcript": "ENST00000648622.1",
"protein_id": "ENSP00000497475.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 890,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1526G>C",
"hgvs_p": "p.Gly509Ala",
"transcript": "ENST00000706267.1",
"protein_id": "ENSP00000516313.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 872,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1523G>C",
"hgvs_p": "p.Gly508Ala",
"transcript": "NM_001351276.2",
"protein_id": "NP_001338205.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 871,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 7967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1466G>C",
"hgvs_p": "p.Gly489Ala",
"transcript": "NM_001364.3",
"protein_id": "NP_001355.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 870,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1466G>C",
"hgvs_p": "p.Gly489Ala",
"transcript": "NM_001377968.1",
"protein_id": "NP_001364897.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 866,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1466G>C",
"hgvs_p": "p.Gly489Ala",
"transcript": "ENST00000524982.5",
"protein_id": "ENSP00000432894.1",
"transcript_support_level": 2,
"aa_start": 489,
"aa_end": null,
"aa_length": 866,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1427G>C",
"hgvs_p": "p.Gly476Ala",
"transcript": "NM_001377970.1",
"protein_id": "NP_001364899.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 857,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 7572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1427G>C",
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}
],
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"gnomad_exomes_homalt": 0,
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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",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1781G>C",
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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
}