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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: 11-65032461-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65032461&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65032461,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013306.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "NM_013306.5",
"protein_id": "NP_037438.2",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 342,
"cds_start": 166,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377244.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013306.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000377244.8",
"protein_id": "ENSP00000366452.3",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 342,
"cds_start": 166,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013306.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377244.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2-SNX15",
"gene_hgnc_id": 49197,
"hgvs_c": "n.*383C>T",
"hgvs_p": null,
"transcript": "ENST00000301886.3",
"protein_id": "ENSP00000476630.1",
"transcript_support_level": 2,
"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": "ENST00000301886.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2-SNX15",
"gene_hgnc_id": 49197,
"hgvs_c": "n.*383C>T",
"hgvs_p": null,
"transcript": "ENST00000301886.3",
"protein_id": "ENSP00000476630.1",
"transcript_support_level": 2,
"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": "ENST00000301886.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000927432.1",
"protein_id": "ENSP00000597491.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 360,
"cds_start": 166,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927432.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000880882.1",
"protein_id": "ENSP00000550941.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 341,
"cds_start": 166,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880882.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000880881.1",
"protein_id": "ENSP00000550940.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 294,
"cds_start": 166,
"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": "ENST00000880881.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "NM_147777.4",
"protein_id": "NP_680086.2",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 256,
"cds_start": 166,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147777.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000352068.5",
"protein_id": "ENSP00000316410.5",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 256,
"cds_start": 166,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352068.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000880879.1",
"protein_id": "ENSP00000550938.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 254,
"cds_start": 166,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880879.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Cys",
"transcript": "ENST00000534637.5",
"protein_id": "ENSP00000437277.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 216,
"cds_start": 154,
"cds_end": null,
"cds_length": 652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534637.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000880883.1",
"protein_id": "ENSP00000550942.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 206,
"cds_start": 166,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880883.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Cys",
"transcript": "ENST00000880880.1",
"protein_id": "ENSP00000550939.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 194,
"cds_start": 130,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880880.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Cys",
"transcript": "ENST00000524831.5",
"protein_id": "ENSP00000431690.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 191,
"cds_start": 130,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524831.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Ser14Ser",
"transcript": "ENST00000525648.1",
"protein_id": "ENSP00000436023.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 65,
"cds_start": 42,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "n.164C>T",
"hgvs_p": null,
"transcript": "ENST00000526702.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000526702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"hgvs_c": "n.234C>T",
"hgvs_p": null,
"transcript": "ENST00000529673.5",
"protein_id": "ENSP00000434778.1",
"transcript_support_level": 3,
"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": "ENST00000529673.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL2-SNX15",
"gene_hgnc_id": 49197,
"hgvs_c": "n.773C>T",
"hgvs_p": null,
"transcript": "NR_037650.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_037650.2"
}
],
"gene_symbol": "SNX15",
"gene_hgnc_id": 14978,
"dbsnp": "rs150458436",
"frequency_reference_population": 0.000009913075,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102609,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3932532072067261,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.4635,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.441,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013306.5",
"gene_symbol": "SNX15",
"hgnc_id": 14978,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000301886.3",
"gene_symbol": "ARL2-SNX15",
"hgnc_id": 49197,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*383C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}