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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: 3-118904753-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=118904753&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IGSF11",
"hgnc_id": 16669,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001353318.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9775,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9162948131561279,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 431,
"aa_ref": "G",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3523,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1296,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001015887.3",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393775.7",
"protein_coding": true,
"protein_id": "NP_001015887.1",
"strand": false,
"transcript": "NM_001015887.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 431,
"aa_ref": "G",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3523,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1296,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393775.7",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001015887.3",
"protein_coding": true,
"protein_id": "ENSP00000377370.2",
"strand": false,
"transcript": "ENST00000393775.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 430,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1293,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000354673.6",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Gly249Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346700.2",
"strand": false,
"transcript": "ENST00000354673.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 481,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3673,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1446,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353318.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340247.1",
"strand": false,
"transcript": "NM_001353318.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 481,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3643,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1446,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874675.1",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544734.1",
"strand": false,
"transcript": "ENST00000874675.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 457,
"aa_ref": "G",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1374,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874677.1",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Gly276Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544736.1",
"strand": false,
"transcript": "ENST00000874677.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 430,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1293,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353320.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Gly249Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340249.1",
"strand": false,
"transcript": "NM_001353320.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 430,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1293,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_152538.4",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Gly249Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689751.2",
"strand": false,
"transcript": "NM_152538.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 430,
"aa_ref": "G",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1293,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000425327.6",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Gly249Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406092.2",
"strand": false,
"transcript": "ENST00000425327.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 429,
"aa_ref": "G",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1290,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947895.1",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Gly248Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617954.1",
"strand": false,
"transcript": "ENST00000947895.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3451,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1224,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001353321.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Gly226Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340250.1",
"strand": false,
"transcript": "NM_001353321.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 407,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1224,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000489689.5",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Gly226Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420486.1",
"strand": false,
"transcript": "ENST00000489689.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 406,
"aa_ref": "G",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3534,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1221,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001353322.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Gly225Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340251.1",
"strand": false,
"transcript": "NM_001353322.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 406,
"aa_ref": "G",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1221,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000441144.6",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Gly225Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401240.2",
"strand": false,
"transcript": "ENST00000441144.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 379,
"aa_ref": "G",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 845,
"cds_end": null,
"cds_length": 1140,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874676.1",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Gly198Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544735.1",
"strand": false,
"transcript": "ENST00000874676.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 372,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3613,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1119,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353325.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Gly191Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340254.1",
"strand": false,
"transcript": "NM_001353325.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 348,
"aa_ref": "G",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1047,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353326.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Gly167Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340255.1",
"strand": false,
"transcript": "NM_001353326.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 453,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": null,
"cds_end": null,
"cds_length": 1362,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353319.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.854-39G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340248.1",
"strand": false,
"transcript": "NM_001353319.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": null,
"cds_end": null,
"cds_length": 1212,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353323.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.704-39G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340252.1",
"strand": false,
"transcript": "NM_001353323.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": null,
"cds_end": null,
"cds_length": 1212,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000491903.1",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.704-39G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417413.1",
"strand": false,
"transcript": "ENST00000491903.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 379,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": null,
"cds_end": null,
"cds_length": 1140,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353324.2",
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"hgvs_c": "c.632-39G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340253.1",
"strand": false,
"transcript": "NM_001353324.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1341947543",
"effect": "missense_variant",
"frequency_reference_population": 0.000013147688,
"gene_hgnc_id": 16669,
"gene_symbol": "IGSF11",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131477,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.444,
"pos": 118904753,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.675,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.23000000417232513,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.23,
"transcript": "NM_001353318.2"
}
]
}