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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: 3-118902681-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=118902681&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 118902681,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353318.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Gly379Arg",
"transcript": "NM_001015887.3",
"protein_id": "NP_001015887.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 431,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393775.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015887.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Gly379Arg",
"transcript": "ENST00000393775.7",
"protein_id": "ENSP00000377370.2",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 431,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001015887.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393775.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Arg",
"transcript": "ENST00000354673.6",
"protein_id": "ENSP00000346700.2",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 430,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354673.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Gly429Arg",
"transcript": "NM_001353318.2",
"protein_id": "NP_001340247.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 481,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353318.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Gly429Arg",
"transcript": "ENST00000874675.1",
"protein_id": "ENSP00000544734.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 481,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874675.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Arg",
"transcript": "ENST00000874677.1",
"protein_id": "ENSP00000544736.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 457,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874677.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Arg",
"transcript": "NM_001353319.2",
"protein_id": "NP_001340248.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 453,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353319.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Arg",
"transcript": "NM_001353320.2",
"protein_id": "NP_001340249.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 430,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353320.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Arg",
"transcript": "NM_152538.4",
"protein_id": "NP_689751.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 430,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152538.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Arg",
"transcript": "ENST00000425327.6",
"protein_id": "ENSP00000406092.2",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 430,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425327.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Arg",
"transcript": "ENST00000947895.1",
"protein_id": "ENSP00000617954.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 429,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947895.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Arg",
"transcript": "NM_001353321.2",
"protein_id": "NP_001340250.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 407,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353321.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Arg",
"transcript": "ENST00000489689.5",
"protein_id": "ENSP00000420486.1",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 407,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489689.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Gly354Arg",
"transcript": "NM_001353322.2",
"protein_id": "NP_001340251.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 406,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353322.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Gly354Arg",
"transcript": "ENST00000441144.6",
"protein_id": "ENSP00000401240.2",
"transcript_support_level": 2,
"aa_start": 354,
"aa_end": null,
"aa_length": 406,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441144.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Gly351Arg",
"transcript": "NM_001353323.2",
"protein_id": "NP_001340252.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 403,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353323.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Gly351Arg",
"transcript": "ENST00000491903.1",
"protein_id": "ENSP00000417413.1",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 403,
"cds_start": 1051,
"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": "ENST00000491903.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"transcript": "NM_001353324.2",
"protein_id": "NP_001340253.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 379,
"cds_start": 979,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001353324.2"
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Arg",
"transcript": "ENST00000874676.1",
"protein_id": "ENSP00000544735.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
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"cds_start": 979,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874676.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Gly320Arg",
"transcript": "NM_001353325.2",
"protein_id": "NP_001340254.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 372,
"cds_start": 958,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353325.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Gly296Arg",
"transcript": "NM_001353326.2",
"protein_id": "NP_001340255.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 348,
"cds_start": 886,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353326.2"
}
],
"gene_symbol": "IGSF11",
"gene_hgnc_id": 16669,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2084372341632843,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.241,
"revel_prediction": "Benign",
"alphamissense_score": 0.1401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.139,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001353318.2",
"gene_symbol": "IGSF11",
"hgnc_id": 16669,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Gly429Arg"
}
],
"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
}