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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: 13-73846133-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=73846133&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 73846133,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007249.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "NM_001400136.1",
"protein_id": "NP_001387065.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000703967.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400136.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "ENST00000703967.1",
"protein_id": "ENSP00000515592.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001400136.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703967.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "ENST00000377669.7",
"protein_id": "ENSP00000366897.2",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377669.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "NM_001400139.1",
"protein_id": "NP_001387068.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400139.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "NM_001400141.1",
"protein_id": "NP_001387070.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400141.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "NM_007249.5",
"protein_id": "NP_009180.3",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007249.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "ENST00000885983.1",
"protein_id": "ENSP00000556042.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885983.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "ENST00000885985.1",
"protein_id": "ENSP00000556044.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885985.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "ENST00000885986.1",
"protein_id": "ENSP00000556045.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885986.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "ENST00000885987.1",
"protein_id": "ENSP00000556046.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885987.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "NM_001400146.1",
"protein_id": "NP_001387075.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 390,
"cds_start": 364,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400146.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Arg103Ser",
"transcript": "NM_001400147.1",
"protein_id": "NP_001387076.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 383,
"cds_start": 307,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400147.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Arg103Ser",
"transcript": "NM_001400148.1",
"protein_id": "NP_001387077.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 383,
"cds_start": 307,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400148.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "NM_001400149.1",
"protein_id": "NP_001387078.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 381,
"cds_start": 364,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400149.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Arg92Ser",
"transcript": "NM_001400150.1",
"protein_id": "NP_001387079.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 372,
"cds_start": 274,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400150.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Arg92Ser",
"transcript": "NM_001400151.1",
"protein_id": "NP_001387080.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 372,
"cds_start": 274,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400151.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Arg92Ser",
"transcript": "ENST00000885984.1",
"protein_id": "ENSP00000556043.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 372,
"cds_start": 274,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885984.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "NM_001400152.1",
"protein_id": "NP_001387081.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 309,
"cds_start": 364,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400152.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "NM_001400153.1",
"protein_id": "NP_001387082.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 309,
"cds_start": 364,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400153.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Arg135Ser",
"transcript": "XM_011534907.3",
"protein_id": "XP_011533209.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 415,
"cds_start": 403,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534907.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Arg135Ser",
"transcript": "XM_011534908.4",
"protein_id": "XP_011533210.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 403,
"cds_start": 403,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534908.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.364C>A",
"hgvs_p": "p.Arg122Ser",
"transcript": "XM_011534909.3",
"protein_id": "XP_011533211.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 402,
"cds_start": 364,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534909.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}