← Back to variant description
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: 11-1288625-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1288625&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "TOLLIP",
"hgnc_id": 16476,
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_019009.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 80,
"alphamissense_prediction": null,
"alphamissense_score": 0.1119,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05408516526222229,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 652,
"cds_end": null,
"cds_length": 825,
"cds_start": 518,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_019009.4",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317204.11",
"protein_coding": true,
"protein_id": "NP_061882.2",
"strand": false,
"transcript": "NM_019009.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 652,
"cds_end": null,
"cds_length": 825,
"cds_start": 518,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000317204.11",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019009.4",
"protein_coding": true,
"protein_id": "ENSP00000314733.5",
"strand": false,
"transcript": "ENST00000317204.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 593,
"cds_end": null,
"cds_length": 900,
"cds_start": 518,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863437.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533496.1",
"strand": false,
"transcript": "ENST00000863437.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 294,
"aa_ref": "A",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": 732,
"cds_end": null,
"cds_length": 885,
"cds_start": 578,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961564.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ala193Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631623.1",
"strand": false,
"transcript": "ENST00000961564.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 825,
"cds_start": 518,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863435.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533494.1",
"strand": false,
"transcript": "ENST00000863435.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 246,
"aa_ref": "A",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 590,
"cds_end": null,
"cds_length": 741,
"cds_start": 434,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000263646.11",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Ala145Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263646.6",
"strand": false,
"transcript": "ENST00000263646.11",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 224,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 502,
"cds_end": null,
"cds_length": 675,
"cds_start": 368,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318512.2",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ala123Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305441.1",
"strand": false,
"transcript": "NM_001318512.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 213,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": 469,
"cds_end": null,
"cds_length": 642,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318516.2",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305445.1",
"strand": false,
"transcript": "NM_001318516.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 213,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3429,
"cdna_start": 456,
"cds_end": null,
"cds_length": 642,
"cds_start": 335,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000525159.5",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432668.1",
"strand": false,
"transcript": "ENST00000525159.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 205,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 692,
"cds_end": null,
"cds_length": 618,
"cds_start": 311,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318514.2",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305443.1",
"strand": false,
"transcript": "NM_001318514.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 205,
"aa_ref": "A",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 692,
"cds_end": null,
"cds_length": 618,
"cds_start": 311,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000527886.5",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ala104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434035.1",
"strand": false,
"transcript": "ENST00000527886.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 185,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 684,
"cdna_start": 493,
"cds_end": null,
"cds_length": 559,
"cds_start": 368,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000530541.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ala123Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434494.1",
"strand": false,
"transcript": "ENST00000530541.1",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1025,
"cdna_start": 303,
"cds_end": null,
"cds_length": 492,
"cds_start": 185,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863436.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Ala62Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533495.1",
"strand": false,
"transcript": "ENST00000863436.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5704,
"cdna_start": 2729,
"cds_end": null,
"cds_length": 864,
"cds_start": 557,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047427134.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Ala186Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283090.1",
"strand": false,
"transcript": "XM_047427134.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 229,
"aa_ref": "A",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1265,
"cdna_start": 533,
"cds_end": null,
"cds_length": 690,
"cds_start": 518,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047427135.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283091.1",
"strand": false,
"transcript": "XM_047427135.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 229,
"aa_ref": "A",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 652,
"cds_end": null,
"cds_length": 690,
"cds_start": 518,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047427136.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283092.1",
"strand": false,
"transcript": "XM_047427136.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 148,
"aa_ref": "A",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 576,
"cds_end": null,
"cds_length": 447,
"cds_start": 140,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017017931.2",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Ala47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873420.1",
"strand": false,
"transcript": "XM_017017931.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 243,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 653,
"cds_end": null,
"cds_length": 732,
"cds_start": 516,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961565.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Arg172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631624.1",
"strand": false,
"transcript": "ENST00000961565.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 80,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": null,
"cds_end": null,
"cds_length": 243,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318515.2",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.183+7020C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305444.1",
"strand": false,
"transcript": "NM_001318515.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 80,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 549,
"cdna_start": null,
"cds_end": null,
"cds_length": 243,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527938.5",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "c.183+7020C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432778.1",
"strand": false,
"transcript": "ENST00000527938.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1297,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000530506.5",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "n.368C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436393.1",
"strand": false,
"transcript": "ENST00000530506.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528719.1",
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"hgvs_c": "n.*11C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000528719.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.980763402969848,
"dbsnp": "rs201951123",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.0000496504,
"gene_hgnc_id": 16476,
"gene_symbol": "TOLLIP",
"gnomad_exomes_ac": 71,
"gnomad_exomes_af": 0.0000486656,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 9,
"gnomad_genomes_af": 0.0000590823,
"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": "Pathogenic",
"phylop100way_score": 9.289,
"pos": 1288625,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.091,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.7720000147819519,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_019009.4"
}
]
}