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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: 2-182928136-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182928136&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 182928136,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_205842.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3161G>A",
"hgvs_p": "p.Arg1054His",
"transcript": "NM_013436.5",
"protein_id": "NP_038464.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3161,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361354.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013436.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3161G>A",
"hgvs_p": "p.Arg1054His",
"transcript": "ENST00000361354.9",
"protein_id": "ENSP00000355348.3",
"transcript_support_level": 1,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3161,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013436.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361354.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3179G>A",
"hgvs_p": "p.Arg1060His",
"transcript": "ENST00000360982.2",
"protein_id": "ENSP00000354251.2",
"transcript_support_level": 1,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3179,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360982.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3179G>A",
"hgvs_p": "p.Arg1060His",
"transcript": "NM_205842.3",
"protein_id": "NP_995314.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3179,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205842.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3176G>A",
"hgvs_p": "p.Arg1059His",
"transcript": "ENST00000888539.1",
"protein_id": "ENSP00000558598.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888539.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3173G>A",
"hgvs_p": "p.Arg1058His",
"transcript": "NM_001437267.1",
"protein_id": "NP_001424196.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437267.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3173G>A",
"hgvs_p": "p.Arg1058His",
"transcript": "ENST00000703824.1",
"protein_id": "ENSP00000515489.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703824.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052His",
"transcript": "NM_001437266.1",
"protein_id": "NP_001424195.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437266.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052His",
"transcript": "ENST00000703825.1",
"protein_id": "ENSP00000515490.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703825.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052His",
"transcript": "ENST00000939370.1",
"protein_id": "ENSP00000609429.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939370.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052His",
"transcript": "ENST00000939372.1",
"protein_id": "ENSP00000609431.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3155,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939372.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3140G>A",
"hgvs_p": "p.Arg1047His",
"transcript": "ENST00000966159.1",
"protein_id": "ENSP00000636218.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966159.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3104G>A",
"hgvs_p": "p.Arg1035His",
"transcript": "ENST00000888538.1",
"protein_id": "ENSP00000558597.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3104,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888538.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3098G>A",
"hgvs_p": "p.Arg1033His",
"transcript": "ENST00000966167.1",
"protein_id": "ENSP00000636226.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966167.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3062G>A",
"hgvs_p": "p.Arg1021His",
"transcript": "ENST00000888537.1",
"protein_id": "ENSP00000558596.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888537.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3050G>A",
"hgvs_p": "p.Arg1017His",
"transcript": "ENST00000888541.1",
"protein_id": "ENSP00000558600.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888541.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3035G>A",
"hgvs_p": "p.Arg1012His",
"transcript": "ENST00000966160.1",
"protein_id": "ENSP00000636219.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966160.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Arg1008His",
"transcript": "ENST00000888540.1",
"protein_id": "ENSP00000558599.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1082,
"cds_start": 3023,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888540.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.3017G>A",
"hgvs_p": "p.Arg1006His",
"transcript": "ENST00000966162.1",
"protein_id": "ENSP00000636221.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1080,
"cds_start": 3017,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966162.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2942G>A",
"hgvs_p": "p.Arg981His",
"transcript": "ENST00000888536.1",
"protein_id": "ENSP00000558595.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2942,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888536.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2882G>A",
"hgvs_p": "p.Arg961His",
"transcript": "ENST00000966166.1",
"protein_id": "ENSP00000636225.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2882,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966166.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCKAP1",
"gene_hgnc_id": 7666,
"hgvs_c": "c.2876G>A",
"hgvs_p": "p.Arg959His",
"transcript": "ENST00000966169.1",
"protein_id": "ENSP00000636228.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2876,
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "NCKAP1",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.30054372549057007,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.9719,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.175,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_205842.3",
"gene_symbol": "NCKAP1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}