← 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: X-154400825-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154400825&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154400825,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000369817.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "NM_006013.5",
"protein_id": "NP_006004.3",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 214,
"cds_start": 616,
"cds_end": null,
"cds_length": 645,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": "ENST00000369817.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "ENST00000369817.7",
"protein_id": "ENSP00000358832.2",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 214,
"cds_start": 616,
"cds_end": null,
"cds_length": 645,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": "NM_006013.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "ENST00000344746.8",
"protein_id": "ENSP00000341730.4",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 214,
"cds_start": 616,
"cds_end": null,
"cds_length": 645,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.453C>A",
"hgvs_p": "p.Leu151Leu",
"transcript": "ENST00000458500.5",
"protein_id": "ENSP00000395025.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 180,
"cds_start": 453,
"cds_end": null,
"cds_length": 545,
"cdna_start": 493,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "n.1643C>A",
"hgvs_p": null,
"transcript": "ENST00000482732.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.278+884C>A",
"hgvs_p": null,
"transcript": "ENST00000451365.1",
"protein_id": "ENSP00000406125.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "NM_001303624.2",
"protein_id": "NP_001290553.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 214,
"cds_start": 616,
"cds_end": null,
"cds_length": 645,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met",
"transcript": "NM_001303625.1",
"protein_id": "NP_001290554.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 214,
"cds_start": 616,
"cds_end": null,
"cds_length": 645,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Leu170Met",
"transcript": "NM_001256580.2",
"protein_id": "NP_001243509.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 178,
"cds_start": 508,
"cds_end": null,
"cds_length": 537,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Leu155Met",
"transcript": "ENST00000406022.6",
"protein_id": "ENSP00000385621.2",
"transcript_support_level": 3,
"aa_start": 155,
"aa_end": null,
"aa_length": 163,
"cds_start": 463,
"cds_end": null,
"cds_length": 492,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.453C>A",
"hgvs_p": "p.Leu151Leu",
"transcript": "NM_001256577.2",
"protein_id": "NP_001243506.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 216,
"cds_start": 453,
"cds_end": null,
"cds_length": 651,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2320,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "n.714C>A",
"hgvs_p": null,
"transcript": "ENST00000467168.5",
"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": 802,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "n.1446C>A",
"hgvs_p": null,
"transcript": "ENST00000489200.5",
"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": 1519,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "n.1281C>A",
"hgvs_p": null,
"transcript": "ENST00000491035.5",
"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": 1369,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "n.1584C>A",
"hgvs_p": null,
"transcript": "ENST00000492572.5",
"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": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.*167C>A",
"hgvs_p": null,
"transcript": "NM_001303626.1",
"protein_id": "NP_001290555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": -4,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.222+199C>A",
"hgvs_p": null,
"transcript": "ENST00000427682.5",
"protein_id": "ENSP00000405064.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.222+199C>A",
"hgvs_p": null,
"transcript": "ENST00000428169.1",
"protein_id": "ENSP00000398047.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.59+884C>A",
"hgvs_p": null,
"transcript": "ENST00000449494.5",
"protein_id": "ENSP00000407754.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": -4,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.*14C>A",
"hgvs_p": null,
"transcript": "ENST00000436473.5",
"protein_id": "ENSP00000388600.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "n.*8C>A",
"hgvs_p": null,
"transcript": "ENST00000485196.5",
"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": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"dbsnp": "rs387906727",
"frequency_reference_population": 0.0000018216596,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000182166,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9189839363098145,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.596,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3684,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.541,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369817.7",
"gene_symbol": "RPL10",
"hgnc_id": 10298,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.616C>A",
"hgvs_p": "p.Leu206Met"
}
],
"clinvar_disease": " X-linked 5, susceptibility to,Autism",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autism, susceptibility to, X-linked 5",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}