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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: 4-169433615-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=169433615&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 169433615,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000507142.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2815A>G",
"hgvs_p": "p.Lys939Glu",
"transcript": "NM_001199397.3",
"protein_id": "NP_001186326.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1286,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "ENST00000507142.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2815A>G",
"hgvs_p": "p.Lys939Glu",
"transcript": "ENST00000507142.6",
"protein_id": "ENSP00000424757.2",
"transcript_support_level": 1,
"aa_start": 939,
"aa_end": null,
"aa_length": 1286,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": "NM_001199397.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2731A>G",
"hgvs_p": "p.Lys911Glu",
"transcript": "ENST00000439128.6",
"protein_id": "ENSP00000408020.2",
"transcript_support_level": 1,
"aa_start": 911,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3372,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2683A>G",
"hgvs_p": "p.Lys895Glu",
"transcript": "ENST00000511633.5",
"protein_id": "ENSP00000423332.1",
"transcript_support_level": 1,
"aa_start": 895,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2683,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2599A>G",
"hgvs_p": "p.Lys867Glu",
"transcript": "ENST00000510533.5",
"protein_id": "ENSP00000427653.1",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3211,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2524A>G",
"hgvs_p": "p.Lys842Glu",
"transcript": "ENST00000512193.5",
"protein_id": "ENSP00000424938.1",
"transcript_support_level": 1,
"aa_start": 842,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2815A>G",
"hgvs_p": "p.Lys939Glu",
"transcript": "NM_001374418.1",
"protein_id": "NP_001361347.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1286,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3427,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2758A>G",
"hgvs_p": "p.Lys920Glu",
"transcript": "ENST00000687643.1",
"protein_id": "ENSP00000509309.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2731A>G",
"hgvs_p": "p.Lys911Glu",
"transcript": "NM_001374419.1",
"protein_id": "NP_001361348.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3265,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2731A>G",
"hgvs_p": "p.Lys911Glu",
"transcript": "NM_012224.4",
"protein_id": "NP_036356.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 6090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2683A>G",
"hgvs_p": "p.Lys895Glu",
"transcript": "NM_001199398.3",
"protein_id": "NP_001186327.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2683,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2680A>G",
"hgvs_p": "p.Lys894Glu",
"transcript": "NM_001374420.1",
"protein_id": "NP_001361349.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2680,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2647A>G",
"hgvs_p": "p.Lys883Glu",
"transcript": "ENST00000685111.1",
"protein_id": "ENSP00000508844.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3224,
"cdna_end": null,
"cdna_length": 5923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2638A>G",
"hgvs_p": "p.Lys880Glu",
"transcript": "NM_001440620.1",
"protein_id": "NP_001427549.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 5997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2599A>G",
"hgvs_p": "p.Lys867Glu",
"transcript": "NM_001199400.3",
"protein_id": "NP_001186329.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3211,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2554A>G",
"hgvs_p": "p.Lys852Glu",
"transcript": "NM_001440621.1",
"protein_id": "NP_001427550.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1199,
"cds_start": 2554,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3088,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2524A>G",
"hgvs_p": "p.Lys842Glu",
"transcript": "NM_001199399.3",
"protein_id": "NP_001186328.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2506A>G",
"hgvs_p": "p.Lys836Glu",
"transcript": "NM_001440622.1",
"protein_id": "NP_001427551.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1183,
"cds_start": 2506,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2422A>G",
"hgvs_p": "p.Lys808Glu",
"transcript": "NM_001440623.1",
"protein_id": "NP_001427552.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 1155,
"cds_start": 2422,
"cds_end": null,
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"cdna_start": 2956,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2332A>G",
"hgvs_p": "p.Lys778Glu",
"transcript": "NM_001374421.1",
"protein_id": "NP_001361350.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2332,
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"cds_length": 3378,
"cdna_start": 2866,
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"cdna_length": 5613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2332A>G",
"hgvs_p": "p.Lys778Glu",
"transcript": "ENST00000686697.1",
"protein_id": "ENSP00000508689.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2332,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "NEK1",
"gene_hgnc_id": 7744,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Lys704Glu",
"transcript": "NM_001440624.1",
"protein_id": "NP_001427553.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2110,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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],
"verdict": "Likely_benign",
"transcript": "ENST00000507142.6",
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],
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],
"clinvar_disease": "Inborn genetic diseases,Short-rib thoracic dysplasia 6 with or without polydactyly,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Inborn genetic diseases|Short-rib thoracic dysplasia 6 with or without polydactyly",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}