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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: 6-35469410-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35469410&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35469410,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007104.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "NM_007104.5",
"protein_id": "NP_009035.3",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 217,
"cds_start": 191,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322203.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007104.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000322203.7",
"protein_id": "ENSP00000363018.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 217,
"cds_start": 191,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007104.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322203.7"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "n.565C>T",
"hgvs_p": null,
"transcript": "ENST00000464112.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464112.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ser86Phe",
"transcript": "ENST00000918620.1",
"protein_id": "ENSP00000588679.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 239,
"cds_start": 257,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918620.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Ser83Phe",
"transcript": "ENST00000961684.1",
"protein_id": "ENSP00000631743.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 236,
"cds_start": 248,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961684.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000918622.1",
"protein_id": "ENSP00000588681.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 226,
"cds_start": 191,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918622.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ser72Phe",
"transcript": "ENST00000918623.1",
"protein_id": "ENSP00000588682.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 225,
"cds_start": 215,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918623.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ser63Phe",
"transcript": "ENST00000864372.1",
"protein_id": "ENSP00000534431.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 216,
"cds_start": 188,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864372.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "ENST00000918617.1",
"protein_id": "ENSP00000588676.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 213,
"cds_start": 179,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918617.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000918621.1",
"protein_id": "ENSP00000588680.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 194,
"cds_start": 191,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918621.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Ser39Phe",
"transcript": "ENST00000864373.1",
"protein_id": "ENSP00000534432.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 192,
"cds_start": 116,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864373.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.110C>T",
"hgvs_p": "p.Ser37Phe",
"transcript": "ENST00000864374.1",
"protein_id": "ENSP00000534433.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 190,
"cds_start": 110,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864374.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Ser36Phe",
"transcript": "ENST00000918619.1",
"protein_id": "ENSP00000588678.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 189,
"cds_start": 107,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918619.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ser12Phe",
"transcript": "ENST00000918618.1",
"protein_id": "ENSP00000588677.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 165,
"cds_start": 35,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918618.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "n.571C>T",
"hgvs_p": null,
"transcript": "ENST00000467020.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467020.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "n.464C>T",
"hgvs_p": null,
"transcript": "ENST00000478340.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478340.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"hgvs_c": "n.279C>T",
"hgvs_p": null,
"transcript": "ENST00000490335.4",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490335.4"
}
],
"gene_symbol": "RPL10A",
"gene_hgnc_id": 10299,
"dbsnp": "rs757860499",
"frequency_reference_population": 0.000002740552,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274055,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8258146643638611,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.468,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6024,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.839,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007104.5",
"gene_symbol": "RPL10A",
"hgnc_id": 10299,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}