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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: 6-152220972-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152220972&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152220972,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_182961.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21731A>G",
"hgvs_p": "p.Tyr7244Cys",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 7244,
"aa_end": null,
"aa_length": 8797,
"cds_start": 21731,
"cds_end": null,
"cds_length": 26394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182961.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21731A>G",
"hgvs_p": "p.Tyr7244Cys",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 7244,
"aa_end": null,
"aa_length": 8797,
"cds_start": 21731,
"cds_end": null,
"cds_length": 26394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367255.10"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21518A>G",
"hgvs_p": "p.Tyr7173Cys",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 7173,
"aa_end": null,
"aa_length": 8749,
"cds_start": 21518,
"cds_end": null,
"cds_length": 26250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423061.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Tyr166Cys",
"transcript": "ENST00000367251.7",
"protein_id": "ENSP00000356220.3",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 1654,
"cds_start": 497,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367251.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.5423A>G",
"hgvs_p": null,
"transcript": "ENST00000367256.9",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000367256.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.5315A>G",
"hgvs_p": null,
"transcript": "ENST00000409694.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000409694.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21518A>G",
"hgvs_p": "p.Tyr7173Cys",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 7173,
"aa_end": null,
"aa_length": 8749,
"cds_start": 21518,
"cds_end": null,
"cds_length": 26250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033071.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21767A>G",
"hgvs_p": "p.Tyr7256Cys",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 7256,
"aa_end": null,
"aa_length": 8846,
"cds_start": 21767,
"cds_end": null,
"cds_length": 26541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715407.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 120,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21767A>G",
"hgvs_p": "p.Tyr7256Cys",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 7256,
"aa_end": null,
"aa_length": 8846,
"cds_start": 21767,
"cds_end": null,
"cds_length": 26541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010608.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21767A>G",
"hgvs_p": "p.Tyr7256Cys",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 7256,
"aa_end": null,
"aa_length": 8846,
"cds_start": 21767,
"cds_end": null,
"cds_length": 26541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010609.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21764A>G",
"hgvs_p": "p.Tyr7255Cys",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 7255,
"aa_end": null,
"aa_length": 8845,
"cds_start": 21764,
"cds_end": null,
"cds_length": 26538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535641.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21755A>G",
"hgvs_p": "p.Tyr7252Cys",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 7252,
"aa_end": null,
"aa_length": 8842,
"cds_start": 21755,
"cds_end": null,
"cds_length": 26529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715408.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21752A>G",
"hgvs_p": "p.Tyr7251Cys",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 7251,
"aa_end": null,
"aa_length": 8841,
"cds_start": 21752,
"cds_end": null,
"cds_length": 26526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535642.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21746A>G",
"hgvs_p": "p.Tyr7249Cys",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 7249,
"aa_end": null,
"aa_length": 8839,
"cds_start": 21746,
"cds_end": null,
"cds_length": 26520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715409.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21746A>G",
"hgvs_p": "p.Tyr7249Cys",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 7249,
"aa_end": null,
"aa_length": 8839,
"cds_start": 21746,
"cds_end": null,
"cds_length": 26520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010610.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21746A>G",
"hgvs_p": "p.Tyr7249Cys",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
"transcript_support_level": null,
"aa_start": 7249,
"aa_end": null,
"aa_length": 8839,
"cds_start": 21746,
"cds_end": null,
"cds_length": 26520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418501.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21740A>G",
"hgvs_p": "p.Tyr7247Cys",
"transcript": "XM_017010611.3",
"protein_id": "XP_016866100.1",
"transcript_support_level": null,
"aa_start": 7247,
"aa_end": null,
"aa_length": 8837,
"cds_start": 21740,
"cds_end": null,
"cds_length": 26514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010611.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21767A>G",
"hgvs_p": "p.Tyr7256Cys",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
"transcript_support_level": null,
"aa_start": 7256,
"aa_end": null,
"aa_length": 8832,
"cds_start": 21767,
"cds_end": null,
"cds_length": 26499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715410.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21764A>G",
"hgvs_p": "p.Tyr7255Cys",
"transcript": "XM_047418502.1",
"protein_id": "XP_047274458.1",
"transcript_support_level": null,
"aa_start": 7255,
"aa_end": null,
"aa_length": 8831,
"cds_start": 21764,
"cds_end": null,
"cds_length": 26496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418502.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 118,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21716A>G",
"hgvs_p": "p.Tyr7239Cys",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
"transcript_support_level": null,
"aa_start": 7239,
"aa_end": null,
"aa_length": 8829,
"cds_start": 21716,
"cds_end": null,
"cds_length": 26490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715411.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21716A>G",
"hgvs_p": "p.Tyr7239Cys",
"transcript": "XM_047418503.1",
"protein_id": "XP_047274459.1",
"transcript_support_level": null,
"aa_start": 7239,
"aa_end": null,
"aa_length": 8829,
"cds_start": 21716,
"cds_end": null,
"cds_length": 26490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418503.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 119,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.21752A>G",
"hgvs_p": "p.Tyr7251Cys",
"transcript": "XM_006715412.3",
"protein_id": "XP_006715475.1",
"transcript_support_level": null,
"aa_start": 7251,
"aa_end": null,
"aa_length": 8827,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Likely_benign",
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"clinvar_disease": " Beauce type, autosomal dominant,Autosomal recessive ataxia,Emery-Dreifuss muscular dystrophy 4,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not provided|Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}