← 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: 3-50107518-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50107518&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50107518,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000347869.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.990T>A",
"hgvs_p": "p.Ala330Ala",
"transcript": "NM_005778.4",
"protein_id": "NP_005769.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 815,
"cds_start": 990,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": "ENST00000347869.8",
"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": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.990T>A",
"hgvs_p": "p.Ala330Ala",
"transcript": "ENST00000347869.8",
"protein_id": "ENSP00000343054.3",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 815,
"cds_start": 990,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": "NM_005778.4",
"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": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.990T>A",
"hgvs_p": "p.Ala330Ala",
"transcript": "XM_006712917.3",
"protein_id": "XP_006712980.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 756,
"cds_start": 990,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3000,
"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": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.768T>A",
"hgvs_p": "p.Ala256Ala",
"transcript": "XM_011533261.3",
"protein_id": "XP_011531563.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 741,
"cds_start": 768,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2955,
"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": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.990T>A",
"hgvs_p": "p.Ala330Ala",
"transcript": "XM_011533262.3",
"protein_id": "XP_011531564.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 741,
"cds_start": 990,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2955,
"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": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.768T>A",
"hgvs_p": "p.Ala256Ala",
"transcript": "XM_017005504.3",
"protein_id": "XP_016860993.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 682,
"cds_start": 768,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2778,
"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": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.990T>A",
"hgvs_p": "p.Ala330Ala",
"transcript": "XM_047447138.1",
"protein_id": "XP_047303094.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 682,
"cds_start": 990,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2778,
"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": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.249T>A",
"hgvs_p": "p.Ala83Ala",
"transcript": "XM_047447139.1",
"protein_id": "XP_047303095.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 568,
"cds_start": 249,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 2404,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.990T>A",
"hgvs_p": "p.Ala330Ala",
"transcript": "XM_047447140.1",
"protein_id": "XP_047303096.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 462,
"cds_start": 990,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1657,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.*564T>A",
"hgvs_p": null,
"transcript": "ENST00000395174.6",
"protein_id": "ENSP00000378603.2",
"transcript_support_level": 3,
"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": 938,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.96T>A",
"hgvs_p": null,
"transcript": "ENST00000441812.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 583,
"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": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.3657T>A",
"hgvs_p": null,
"transcript": "ENST00000464087.6",
"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": 5616,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.465T>A",
"hgvs_p": null,
"transcript": "ENST00000474818.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 832,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.38T>A",
"hgvs_p": null,
"transcript": "ENST00000489437.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 625,
"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": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.162T>A",
"hgvs_p": null,
"transcript": "ENST00000494360.5",
"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": 585,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.1253T>A",
"hgvs_p": null,
"transcript": "ENST00000496179.5",
"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": 1406,
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.1080T>A",
"hgvs_p": null,
"transcript": "NR_036627.3",
"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": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.*564T>A",
"hgvs_p": null,
"transcript": "ENST00000395174.6",
"protein_id": "ENSP00000378603.2",
"transcript_support_level": 3,
"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": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"dbsnp": "rs1061474",
"frequency_reference_population": 0.0000020582456,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205825,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"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": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.2,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000347869.8",
"gene_symbol": "RBM5",
"hgnc_id": 9902,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.990T>A",
"hgvs_p": "p.Ala330Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}