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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: 3-36897795-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=36897795&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 36897795,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000645898.2",
"consequences": [
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.433+1314C>T",
"hgvs_p": null,
"transcript": "NM_001329998.2",
"protein_id": "NP_001316927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2969,
"cds_start": -4,
"cds_end": null,
"cds_length": 8910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10611,
"mane_select": "ENST00000645898.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.433+1314C>T",
"hgvs_p": null,
"transcript": "ENST00000645898.2",
"protein_id": "ENSP00000494480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2969,
"cds_start": -4,
"cds_end": null,
"cds_length": 8910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10611,
"mane_select": "NM_001329998.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.301+1314C>T",
"hgvs_p": null,
"transcript": "NM_014831.3",
"protein_id": "NP_055646.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2925,
"cds_start": -4,
"cds_end": null,
"cds_length": 8778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.301+1314C>T",
"hgvs_p": null,
"transcript": "ENST00000429976.6",
"protein_id": "ENSP00000416168.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2925,
"cds_start": -4,
"cds_end": null,
"cds_length": 8778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "n.409+1314C>T",
"hgvs_p": null,
"transcript": "ENST00000646897.1",
"protein_id": "ENSP00000496771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.436+1314C>T",
"hgvs_p": null,
"transcript": "XM_011534289.3",
"protein_id": "XP_011532591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2970,
"cds_start": -4,
"cds_end": null,
"cds_length": 8913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.436+1314C>T",
"hgvs_p": null,
"transcript": "XM_047449325.1",
"protein_id": "XP_047305281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2970,
"cds_start": -4,
"cds_end": null,
"cds_length": 8913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.409+1314C>T",
"hgvs_p": null,
"transcript": "XM_047449326.1",
"protein_id": "XP_047305282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2961,
"cds_start": -4,
"cds_end": null,
"cds_length": 8886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.409+1314C>T",
"hgvs_p": null,
"transcript": "XM_047449327.1",
"protein_id": "XP_047305283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2961,
"cds_start": -4,
"cds_end": null,
"cds_length": 8886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.505+1314C>T",
"hgvs_p": null,
"transcript": "XM_017007570.2",
"protein_id": "XP_016863059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2936,
"cds_start": -4,
"cds_end": null,
"cds_length": 8811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.433+1314C>T",
"hgvs_p": null,
"transcript": "XM_047449328.1",
"protein_id": "XP_047305284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2912,
"cds_start": -4,
"cds_end": null,
"cds_length": 8739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.409+1314C>T",
"hgvs_p": null,
"transcript": "XM_047449329.1",
"protein_id": "XP_047305285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2904,
"cds_start": -4,
"cds_end": null,
"cds_length": 8715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.-115+1314C>T",
"hgvs_p": null,
"transcript": "XM_047449330.1",
"protein_id": "XP_047305286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2747,
"cds_start": -4,
"cds_end": null,
"cds_length": 8244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.505+1314C>T",
"hgvs_p": null,
"transcript": "XM_017007573.2",
"protein_id": "XP_016863062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1819,
"cds_start": -4,
"cds_end": null,
"cds_length": 5460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.505+1314C>T",
"hgvs_p": null,
"transcript": "XM_047449331.1",
"protein_id": "XP_047305287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1661,
"cds_start": -4,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"hgvs_c": "c.433+1314C>T",
"hgvs_p": null,
"transcript": "XM_047449332.1",
"protein_id": "XP_047305288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1637,
"cds_start": -4,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRANK1",
"gene_hgnc_id": 29011,
"dbsnp": "rs6550440",
"frequency_reference_population": 0.32129,
"hom_count_reference_population": 8685,
"allele_count_reference_population": 48856,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.32129,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 48856,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8685,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.935,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000645898.2",
"gene_symbol": "TRANK1",
"hgnc_id": 29011,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.433+1314C>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
}