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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-47173143-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47173143&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47173143,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000377604.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Gln150*",
"transcript": "NM_005676.5",
"protein_id": "NP_005667.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 930,
"cds_start": 448,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "ENST00000377604.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Gln150*",
"transcript": "ENST00000377604.8",
"protein_id": "ENSP00000366829.3",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 930,
"cds_start": 448,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "NM_005676.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*",
"transcript": "ENST00000329236.8",
"protein_id": "ENSP00000328848.8",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 995,
"cds_start": 643,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Gln73*",
"transcript": "ENST00000628161.2",
"protein_id": "ENSP00000486115.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 852,
"cds_start": 217,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*",
"transcript": "NM_001204468.2",
"protein_id": "NP_001191397.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 995,
"cds_start": 643,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*",
"transcript": "NM_001440861.1",
"protein_id": "NP_001427790.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 994,
"cds_start": 643,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Gln150*",
"transcript": "NM_001204467.2",
"protein_id": "NP_001191396.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 929,
"cds_start": 448,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"transcript": "NM_001440862.1",
"protein_id": "NP_001427791.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 918,
"cds_start": 412,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"transcript": "NM_001440863.1",
"protein_id": "NP_001427792.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 917,
"cds_start": 412,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Gln73*",
"transcript": "NM_001204466.2",
"protein_id": "NP_001191395.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 853,
"cds_start": 217,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Gln73*",
"transcript": "ENST00000345781.10",
"protein_id": "ENSP00000329659.6",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 853,
"cds_start": 217,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Gln73*",
"transcript": "NM_152856.3",
"protein_id": "NP_690595.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 852,
"cds_start": 217,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Gln215*",
"transcript": "XM_047442551.1",
"protein_id": "XP_047298507.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 800,
"cds_start": 643,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Gln150*",
"transcript": "XM_047442552.1",
"protein_id": "XP_047298508.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 735,
"cds_start": 448,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Gln138*",
"transcript": "XM_047442554.1",
"protein_id": "XP_047298510.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 723,
"cds_start": 412,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Gln73*",
"transcript": "XM_047442555.1",
"protein_id": "XP_047298511.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 658,
"cds_start": 217,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 607,
"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": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"hgvs_c": "c.-88C>T",
"hgvs_p": null,
"transcript": "XM_047442553.1",
"protein_id": "XP_047298509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": -4,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBM10",
"gene_hgnc_id": 9896,
"dbsnp": "rs886044718",
"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": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"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": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.001,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000377604.8",
"gene_symbol": "RBM10",
"hgnc_id": 9896,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL",
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Gln150*"
}
],
"clinvar_disease": "TARP syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "TARP syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}