← Back to variant description
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: 2-233335078-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233335078&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233335078,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000409110.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "c.926delA",
"hgvs_p": "p.Asn309fs",
"transcript": "NM_000541.5",
"protein_id": "NP_000532.2",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 405,
"cds_start": 926,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": "ENST00000409110.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "c.926delA",
"hgvs_p": "p.Asn309fs",
"transcript": "ENST00000409110.6",
"protein_id": "ENSP00000386444.1",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 405,
"cds_start": 926,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": "NM_000541.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "c.926delA",
"hgvs_p": "p.Asn309fs",
"transcript": "XM_017004641.2",
"protein_id": "XP_016860130.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 373,
"cds_start": 926,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "c.926delA",
"hgvs_p": "p.Asn309fs",
"transcript": "XM_017004642.2",
"protein_id": "XP_016860131.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 369,
"cds_start": 926,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "c.626delA",
"hgvs_p": "p.Asn209fs",
"transcript": "XM_011511593.4",
"protein_id": "XP_011509895.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 305,
"cds_start": 626,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "c.554delA",
"hgvs_p": "p.Asn185fs",
"transcript": "XM_011511594.1",
"protein_id": "XP_011509896.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 281,
"cds_start": 554,
"cds_end": null,
"cds_length": 846,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "c.524delA",
"hgvs_p": "p.Asn175fs",
"transcript": "XM_011511596.2",
"protein_id": "XP_011509898.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 271,
"cds_start": 524,
"cds_end": null,
"cds_length": 816,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1302,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "n.2146delA",
"hgvs_p": null,
"transcript": "ENST00000412969.6",
"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": 2581,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "n.943delA",
"hgvs_p": null,
"transcript": "ENST00000469222.5",
"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": 4984,
"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": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "n.2957delA",
"hgvs_p": null,
"transcript": "ENST00000471884.5",
"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": 3391,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "n.366delA",
"hgvs_p": null,
"transcript": "ENST00000473771.1",
"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": 482,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "n.6225delA",
"hgvs_p": null,
"transcript": "ENST00000476500.5",
"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": 6659,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "n.310delA",
"hgvs_p": null,
"transcript": "ENST00000483231.5",
"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": 496,
"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": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"hgvs_c": "n.954delA",
"hgvs_p": null,
"transcript": "XR_001738882.2",
"protein_id": null,
"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": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SAG",
"gene_hgnc_id": 10521,
"dbsnp": "rs587776778",
"frequency_reference_population": 0.000037178408,
"hom_count_reference_population": 1,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000376335,
"gnomad_genomes_af": 0.0000328131,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.844,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000409110.6",
"gene_symbol": "SAG",
"hgnc_id": 10521,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.926delA",
"hgvs_p": "p.Asn309fs"
}
],
"clinvar_disease": "Oguchi disease,Retinal dystrophy,Retinitis pigmentosa 47,SAG-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Oguchi disease|Retinitis pigmentosa 47|SAG-related disorder|Retinal dystrophy|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}