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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: X-47181540-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47181540&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47181540,
"ref": "CTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000377604.8",
"consequences": [
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1473_1474delGT",
"hgvs_p": "p.Ser492fs",
"transcript": "NM_005676.5",
"protein_id": "NP_005667.2",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 930,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "ENST00000377604.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1473_1474delGT",
"hgvs_p": "p.Ser492fs",
"transcript": "ENST00000377604.8",
"protein_id": "ENSP00000366829.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 930,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "NM_005676.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1668_1669delGT",
"hgvs_p": "p.Ser557fs",
"transcript": "ENST00000329236.8",
"protein_id": "ENSP00000328848.8",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 995,
"cds_start": 1668,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1239_1240delGT",
"hgvs_p": "p.Ser414fs",
"transcript": "ENST00000628161.2",
"protein_id": "ENSP00000486115.1",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 852,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1668_1669delGT",
"hgvs_p": "p.Ser557fs",
"transcript": "NM_001204468.2",
"protein_id": "NP_001191397.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 995,
"cds_start": 1668,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1665_1666delGT",
"hgvs_p": "p.Ser556fs",
"transcript": "NM_001440861.1",
"protein_id": "NP_001427790.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 994,
"cds_start": 1665,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1470_1471delGT",
"hgvs_p": "p.Ser491fs",
"transcript": "NM_001204467.2",
"protein_id": "NP_001191396.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 929,
"cds_start": 1470,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1437_1438delGT",
"hgvs_p": "p.Ser480fs",
"transcript": "NM_001440862.1",
"protein_id": "NP_001427791.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 918,
"cds_start": 1437,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1434_1435delGT",
"hgvs_p": "p.Ser479fs",
"transcript": "NM_001440863.1",
"protein_id": "NP_001427792.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 917,
"cds_start": 1434,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1242_1243delGT",
"hgvs_p": "p.Ser415fs",
"transcript": "NM_001204466.2",
"protein_id": "NP_001191395.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 853,
"cds_start": 1242,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1242_1243delGT",
"hgvs_p": "p.Ser415fs",
"transcript": "ENST00000345781.10",
"protein_id": "ENSP00000329659.6",
"transcript_support_level": 2,
"aa_start": 414,
"aa_end": null,
"aa_length": 853,
"cds_start": 1242,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1239_1240delGT",
"hgvs_p": "p.Ser414fs",
"transcript": "NM_152856.3",
"protein_id": "NP_690595.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 852,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.1083_1084delGT",
"hgvs_p": "p.Ser362fs",
"transcript": "XM_047442551.1",
"protein_id": "XP_047298507.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 800,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.888_889delGT",
"hgvs_p": "p.Ser297fs",
"transcript": "XM_047442552.1",
"protein_id": "XP_047298508.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 735,
"cds_start": 888,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.864_865delGT",
"hgvs_p": "p.Ser289fs",
"transcript": "XM_047442553.1",
"protein_id": "XP_047298509.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 727,
"cds_start": 864,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.852_853delGT",
"hgvs_p": "p.Ser285fs",
"transcript": "XM_047442554.1",
"protein_id": "XP_047298510.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 723,
"cds_start": 852,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.657_658delGT",
"hgvs_p": "p.Ser220fs",
"transcript": "XM_047442555.1",
"protein_id": "XP_047298511.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 658,
"cds_start": 657,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.537_538delGT",
"hgvs_p": "p.Ser180fs",
"transcript": "XM_047442556.1",
"protein_id": "XP_047298512.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 618,
"cds_start": 537,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2342,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "n.393_394delGT",
"hgvs_p": null,
"transcript": "ENST00000496012.6",
"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": 509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"dbsnp": "rs1556779417",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"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": 1.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000377604.8",
"gene_symbol": "RBM10",
"hgnc_id": 9896,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1473_1474delGT",
"hgvs_p": "p.Ser492fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}