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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: 15-41569016-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41569016&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41569016,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006293.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Arg416Ser",
"transcript": "NM_006293.4",
"protein_id": "NP_006284.2",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 890,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263798.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006293.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Arg416Ser",
"transcript": "ENST00000263798.8",
"protein_id": "ENSP00000263798.3",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 890,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006293.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263798.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Arg416Ser",
"transcript": "ENST00000869540.1",
"protein_id": "ENSP00000539599.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 921,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869540.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Arg416Ser",
"transcript": "ENST00000869541.1",
"protein_id": "ENSP00000539600.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 909,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869541.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Arg402Ser",
"transcript": "ENST00000941858.1",
"protein_id": "ENSP00000611917.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 907,
"cds_start": 1204,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941858.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Arg416Ser",
"transcript": "ENST00000938082.1",
"protein_id": "ENSP00000608141.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 889,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938082.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Arg416Ser",
"transcript": "ENST00000869539.1",
"protein_id": "ENSP00000539598.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 885,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869539.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1213C>A",
"hgvs_p": "p.Arg405Ser",
"transcript": "ENST00000938084.1",
"protein_id": "ENSP00000608143.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 879,
"cds_start": 1213,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938084.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Arg402Ser",
"transcript": "ENST00000869538.1",
"protein_id": "ENSP00000539597.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 876,
"cds_start": 1204,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869538.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Arg402Ser",
"transcript": "ENST00000938083.1",
"protein_id": "ENSP00000608142.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 871,
"cds_start": 1204,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938083.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1189C>A",
"hgvs_p": "p.Arg397Ser",
"transcript": "ENST00000941859.1",
"protein_id": "ENSP00000611918.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 871,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941859.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Ser",
"transcript": "ENST00000941856.1",
"protein_id": "ENSP00000611915.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 861,
"cds_start": 1159,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941856.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1111C>A",
"hgvs_p": "p.Arg371Ser",
"transcript": "NM_001330264.2",
"protein_id": "NP_001317193.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 845,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330264.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1111C>A",
"hgvs_p": "p.Arg371Ser",
"transcript": "ENST00000559066.5",
"protein_id": "ENSP00000454050.1",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 845,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559066.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.922C>A",
"hgvs_p": "p.Arg308Ser",
"transcript": "ENST00000941857.1",
"protein_id": "ENSP00000611916.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 782,
"cds_start": 922,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941857.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Arg416Ser",
"transcript": "XM_017022543.3",
"protein_id": "XP_016878032.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 771,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022543.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "n.303+654C>A",
"hgvs_p": null,
"transcript": "ENST00000559815.1",
"protein_id": "ENSP00000453835.1",
"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": "ENST00000559815.1"
}
],
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"dbsnp": "rs139291400",
"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": 0.0584338903427124,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.0888,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.395,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006293.4",
"gene_symbol": "TYRO3",
"hgnc_id": 12446,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1246C>A",
"hgvs_p": "p.Arg416Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}