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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: 11-65649963-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65649963&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65649963,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000534313.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "NM_006747.4",
"protein_id": "NP_006738.3",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": "ENST00000534313.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "ENST00000534313.6",
"protein_id": "ENSP00000436269.1",
"transcript_support_level": 1,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": "NM_006747.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "ENST00000394224.4",
"protein_id": "ENSP00000377771.3",
"transcript_support_level": 1,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "NM_153253.30",
"protein_id": "NP_694985.29",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2454G>C",
"hgvs_p": "p.Ala818Ala",
"transcript": "ENST00000527525.5",
"protein_id": "ENSP00000433686.1",
"transcript_support_level": 2,
"aa_start": 818,
"aa_end": null,
"aa_length": 940,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "XM_005274189.3",
"protein_id": "XP_005274246.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "XM_047427427.1",
"protein_id": "XP_047283383.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 5229,
"cdna_end": null,
"cdna_length": 5795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "XM_047427428.1",
"protein_id": "XP_047283384.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 4002,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "XM_047427429.1",
"protein_id": "XP_047283385.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "XM_047427430.1",
"protein_id": "XP_047283386.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 5467,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "XM_047427431.1",
"protein_id": "XP_047283387.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2760,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "n.194G>C",
"hgvs_p": null,
"transcript": "ENST00000529725.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"hgvs_c": "n.577G>C",
"hgvs_p": null,
"transcript": "ENST00000531339.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SIPA1",
"gene_hgnc_id": 10885,
"dbsnp": "rs746429",
"frequency_reference_population": 6.8410026e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.841e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.695,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000534313.6",
"gene_symbol": "SIPA1",
"hgnc_id": 10885,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}