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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: 6-80038006-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=80038006&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 80038006,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003318.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Asp697Tyr",
"transcript": "NM_003318.5",
"protein_id": "NP_003309.2",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 857,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": "ENST00000369798.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003318.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Asp697Tyr",
"transcript": "ENST00000369798.7",
"protein_id": "ENSP00000358813.2",
"transcript_support_level": 1,
"aa_start": 697,
"aa_end": null,
"aa_length": 857,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": "NM_003318.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369798.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2125G>T",
"hgvs_p": "p.Asp709Tyr",
"transcript": "ENST00000936248.1",
"protein_id": "ENSP00000606307.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 869,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936248.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2107G>T",
"hgvs_p": "p.Asp703Tyr",
"transcript": "ENST00000936244.1",
"protein_id": "ENSP00000606303.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 863,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936244.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2107G>T",
"hgvs_p": "p.Asp703Tyr",
"transcript": "ENST00000936246.1",
"protein_id": "ENSP00000606305.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 863,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936246.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Asp697Tyr",
"transcript": "NM_001438341.1",
"protein_id": "NP_001425270.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 857,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438341.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Asp697Tyr",
"transcript": "ENST00000867612.1",
"protein_id": "ENSP00000537671.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 857,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867612.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Asp697Tyr",
"transcript": "ENST00000936245.1",
"protein_id": "ENSP00000606304.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 857,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936245.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2086G>T",
"hgvs_p": "p.Asp696Tyr",
"transcript": "NM_001166691.2",
"protein_id": "NP_001160163.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 856,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166691.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2086G>T",
"hgvs_p": "p.Asp696Tyr",
"transcript": "NM_001437890.1",
"protein_id": "NP_001424819.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 856,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437890.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2086G>T",
"hgvs_p": "p.Asp696Tyr",
"transcript": "ENST00000230510.7",
"protein_id": "ENSP00000230510.3",
"transcript_support_level": 2,
"aa_start": 696,
"aa_end": null,
"aa_length": 856,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230510.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2086G>T",
"hgvs_p": "p.Asp696Tyr",
"transcript": "ENST00000509894.5",
"protein_id": "ENSP00000422936.1",
"transcript_support_level": 5,
"aa_start": 696,
"aa_end": null,
"aa_length": 856,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509894.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.2080G>T",
"hgvs_p": "p.Asp694Tyr",
"transcript": "ENST00000936247.1",
"protein_id": "ENSP00000606306.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 854,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936247.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.1906G>T",
"hgvs_p": "p.Asp636Tyr",
"transcript": "ENST00000936249.1",
"protein_id": "ENSP00000606308.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 796,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936249.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "c.1924G>T",
"hgvs_p": "p.Asp642Tyr",
"transcript": "XM_017011242.3",
"protein_id": "XP_016866731.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 802,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011242.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"hgvs_c": "n.454G>T",
"hgvs_p": null,
"transcript": "ENST00000504590.1",
"protein_id": null,
"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": 748,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000504590.1"
}
],
"gene_symbol": "TTK",
"gene_hgnc_id": 12401,
"dbsnp": "rs1057520011",
"frequency_reference_population": 0.0000013712774,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137128,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8161834478378296,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.619,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.46,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.961,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003318.5",
"gene_symbol": "TTK",
"hgnc_id": 12401,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Asp697Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}