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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: 2-201384210-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201384210&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201384210,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015049.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Asn",
"transcript": "NM_015049.3",
"protein_id": "NP_055864.2",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 914,
"cds_start": 1970,
"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": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Asn",
"transcript": "ENST00000332624.8",
"protein_id": "ENSP00000328875.3",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 914,
"cds_start": 1970,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.2039C>A",
"hgvs_p": "p.Thr680Asn",
"transcript": "ENST00000861749.1",
"protein_id": "ENSP00000531808.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 937,
"cds_start": 2039,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Asn",
"transcript": "ENST00000861746.1",
"protein_id": "ENSP00000531805.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 914,
"cds_start": 1970,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Asn",
"transcript": "ENST00000861747.1",
"protein_id": "ENSP00000531806.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 914,
"cds_start": 1970,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Asn",
"transcript": "ENST00000861753.1",
"protein_id": "ENSP00000531812.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 914,
"cds_start": 1970,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Asn",
"transcript": "ENST00000972038.1",
"protein_id": "ENSP00000642097.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 914,
"cds_start": 1970,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1967C>A",
"hgvs_p": "p.Thr656Asn",
"transcript": "ENST00000972037.1",
"protein_id": "ENSP00000642096.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 913,
"cds_start": 1967,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1964C>A",
"hgvs_p": "p.Thr655Asn",
"transcript": "ENST00000861750.1",
"protein_id": "ENSP00000531809.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 912,
"cds_start": 1964,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1961C>A",
"hgvs_p": "p.Thr654Asn",
"transcript": "ENST00000972035.1",
"protein_id": "ENSP00000642094.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 911,
"cds_start": 1961,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1913C>A",
"hgvs_p": "p.Thr638Asn",
"transcript": "ENST00000861752.1",
"protein_id": "ENSP00000531811.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 895,
"cds_start": 1913,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Thr632Asn",
"transcript": "ENST00000861748.1",
"protein_id": "ENSP00000531807.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 889,
"cds_start": 1895,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1766C>A",
"hgvs_p": "p.Thr589Asn",
"transcript": "ENST00000972036.1",
"protein_id": "ENSP00000642095.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 846,
"cds_start": 1766,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Thr657Asn",
"transcript": "XM_047445578.1",
"protein_id": "XP_047301534.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 914,
"cds_start": 1970,
"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": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1337C>A",
"hgvs_p": "p.Thr446Asn",
"transcript": "XM_047445579.1",
"protein_id": "XP_047301535.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 703,
"cds_start": 1337,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"hgvs_c": "c.1964-12C>A",
"hgvs_p": null,
"transcript": "ENST00000861751.1",
"protein_id": "ENSP00000531810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 908,
"cds_start": null,
"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"
}
],
"gene_symbol": "TRAK2",
"gene_hgnc_id": 13206,
"dbsnp": "rs142149505",
"frequency_reference_population": 0.000008686911,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000685115,
"gnomad_genomes_af": 0.0000263137,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10309529304504395,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.1082,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.545,
"phylop100way_prediction": "Uncertain_significance",
"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.1970C>A",
"hgvs_p": "p.Thr657Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}