← 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: 11-1277085-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1277085&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1277085,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019009.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Lys260Arg",
"transcript": "NM_019009.4",
"protein_id": "NP_061882.2",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 274,
"cds_start": 779,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317204.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019009.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Lys260Arg",
"transcript": "ENST00000317204.11",
"protein_id": "ENSP00000314733.5",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 274,
"cds_start": 779,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019009.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317204.11"
},
{
"aa_ref": "K",
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.Lys285Arg",
"transcript": "ENST00000863437.1",
"protein_id": "ENSP00000533496.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 299,
"cds_start": 854,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863437.1"
},
{
"aa_ref": "K",
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.839A>G",
"hgvs_p": "p.Lys280Arg",
"transcript": "ENST00000961564.1",
"protein_id": "ENSP00000631623.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 294,
"cds_start": 839,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961564.1"
},
{
"aa_ref": "K",
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Lys260Arg",
"transcript": "ENST00000863435.1",
"protein_id": "ENSP00000533494.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 274,
"cds_start": 779,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863435.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "ENST00000263646.11",
"protein_id": "ENSP00000263646.6",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 246,
"cds_start": 695,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263646.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Lys229Arg",
"transcript": "ENST00000961565.1",
"protein_id": "ENSP00000631624.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 243,
"cds_start": 686,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961565.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.629A>G",
"hgvs_p": "p.Lys210Arg",
"transcript": "NM_001318512.2",
"protein_id": "NP_001305441.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 224,
"cds_start": 629,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318512.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Lys199Arg",
"transcript": "NM_001318516.2",
"protein_id": "NP_001305445.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 213,
"cds_start": 596,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318516.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Lys199Arg",
"transcript": "ENST00000525159.5",
"protein_id": "ENSP00000432668.1",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 213,
"cds_start": 596,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525159.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "NM_001318514.2",
"protein_id": "NP_001305443.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 205,
"cds_start": 572,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318514.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"transcript": "ENST00000527886.5",
"protein_id": "ENSP00000434035.1",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 205,
"cds_start": 572,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527886.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Lys149Arg",
"transcript": "ENST00000863436.1",
"protein_id": "ENSP00000533495.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 163,
"cds_start": 446,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863436.1"
},
{
"aa_ref": "K",
"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": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Lys273Arg",
"transcript": "XM_047427134.1",
"protein_id": "XP_047283090.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 287,
"cds_start": 818,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427134.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.401A>G",
"hgvs_p": "p.Lys134Arg",
"transcript": "XM_017017931.2",
"protein_id": "XP_016873420.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 148,
"cds_start": 401,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017931.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.*109A>G",
"hgvs_p": null,
"transcript": "NM_001318515.2",
"protein_id": "NP_001305444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318515.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.*109A>G",
"hgvs_p": null,
"transcript": "ENST00000527938.5",
"protein_id": "ENSP00000432778.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527938.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "n.*404A>G",
"hgvs_p": null,
"transcript": "ENST00000530506.5",
"protein_id": "ENSP00000436393.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000530506.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "n.*404A>G",
"hgvs_p": null,
"transcript": "ENST00000530506.5",
"protein_id": "ENSP00000436393.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000530506.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"hgvs_c": "c.*70A>G",
"hgvs_p": null,
"transcript": "ENST00000530541.1",
"protein_id": "ENSP00000434494.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530541.1"
}
],
"gene_symbol": "TOLLIP",
"gene_hgnc_id": 16476,
"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": 0.10234618186950684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0742,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.179,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_019009.4",
"gene_symbol": "TOLLIP",
"hgnc_id": 16476,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Lys260Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}