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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: 2-201380733-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201380733&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201380733,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015049.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ala852Gly",
"transcript": "NM_015049.3",
"protein_id": "NP_055864.2",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 914,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332624.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015049.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ala852Gly",
"transcript": "ENST00000332624.8",
"protein_id": "ENSP00000328875.3",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 914,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015049.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332624.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2624C>G",
"hgvs_p": "p.Ala875Gly",
"transcript": "ENST00000861749.1",
"protein_id": "ENSP00000531808.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 937,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861749.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ala852Gly",
"transcript": "ENST00000861746.1",
"protein_id": "ENSP00000531805.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 914,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861746.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ala852Gly",
"transcript": "ENST00000861747.1",
"protein_id": "ENSP00000531806.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 914,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861747.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ala852Gly",
"transcript": "ENST00000861753.1",
"protein_id": "ENSP00000531812.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 914,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861753.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ala852Gly",
"transcript": "ENST00000972038.1",
"protein_id": "ENSP00000642097.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 914,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972038.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2552C>G",
"hgvs_p": "p.Ala851Gly",
"transcript": "ENST00000972037.1",
"protein_id": "ENSP00000642096.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 913,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972037.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2549C>G",
"hgvs_p": "p.Ala850Gly",
"transcript": "ENST00000861750.1",
"protein_id": "ENSP00000531809.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 912,
"cds_start": 2549,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861750.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2546C>G",
"hgvs_p": "p.Ala849Gly",
"transcript": "ENST00000972035.1",
"protein_id": "ENSP00000642094.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 911,
"cds_start": 2546,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972035.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2537C>G",
"hgvs_p": "p.Ala846Gly",
"transcript": "ENST00000861751.1",
"protein_id": "ENSP00000531810.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 908,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861751.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2498C>G",
"hgvs_p": "p.Ala833Gly",
"transcript": "ENST00000861752.1",
"protein_id": "ENSP00000531811.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 895,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861752.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2480C>G",
"hgvs_p": "p.Ala827Gly",
"transcript": "ENST00000861748.1",
"protein_id": "ENSP00000531807.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 889,
"cds_start": 2480,
"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": "ENST00000861748.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2351C>G",
"hgvs_p": "p.Ala784Gly",
"transcript": "ENST00000972036.1",
"protein_id": "ENSP00000642095.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 846,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972036.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ala852Gly",
"transcript": "XM_047445578.1",
"protein_id": "XP_047301534.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 914,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445578.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1922C>G",
"hgvs_p": "p.Ala641Gly",
"transcript": "XM_047445579.1",
"protein_id": "XP_047301535.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 703,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445579.1"
}
],
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"dbsnp": "rs1363476975",
"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": 0.08886811137199402,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0724,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015049.3",
"gene_symbol": "TRAK2",
"hgnc_id": 13206,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ala852Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}