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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: 6-34424787-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=34424787&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 34424787,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000648437.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "NM_001014.5",
"protein_id": "NP_001005.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 165,
"cds_start": 204,
"cds_end": null,
"cds_length": 498,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 588,
"mane_select": "ENST00000648437.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000648437.1",
"protein_id": "ENSP00000497917.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 165,
"cds_start": 204,
"cds_end": null,
"cds_length": 498,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 588,
"mane_select": "NM_001014.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000639725.1",
"protein_id": "ENSP00000492441.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 291,
"cds_start": 204,
"cds_end": null,
"cds_length": 876,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 4782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "NM_001202470.3",
"protein_id": "NP_001189399.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 291,
"cds_start": 204,
"cds_end": null,
"cds_length": 876,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000639877.1",
"protein_id": "ENSP00000491891.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 291,
"cds_start": 204,
"cds_end": null,
"cds_length": 876,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000644700.1",
"protein_id": "ENSP00000495142.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 213,
"cds_start": 204,
"cds_end": null,
"cds_length": 642,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Tyr43Tyr",
"transcript": "ENST00000605528.2",
"protein_id": "ENSP00000475027.2",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 196,
"cds_start": 129,
"cds_end": null,
"cds_length": 593,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000644393.1",
"protein_id": "ENSP00000496022.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 186,
"cds_start": 204,
"cds_end": null,
"cds_length": 561,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000344700.8",
"protein_id": "ENSP00000363169.1",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 172,
"cds_start": 204,
"cds_end": null,
"cds_length": 519,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "NM_001203245.3",
"protein_id": "NP_001190174.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 165,
"cds_start": 204,
"cds_end": null,
"cds_length": 498,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "NM_001204091.2",
"protein_id": "NP_001191020.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 165,
"cds_start": 204,
"cds_end": null,
"cds_length": 498,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000464218.5",
"protein_id": "ENSP00000494440.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 165,
"cds_start": 204,
"cds_end": null,
"cds_length": 498,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000467531.5",
"protein_id": "ENSP00000494190.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 165,
"cds_start": 204,
"cds_end": null,
"cds_length": 498,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000621356.3",
"protein_id": "ENSP00000481646.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 165,
"cds_start": 204,
"cds_end": null,
"cds_length": 498,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr",
"transcript": "ENST00000494077.6",
"protein_id": "ENSP00000495405.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 120,
"cds_start": 204,
"cds_end": null,
"cds_length": 364,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "n.223C>T",
"hgvs_p": null,
"transcript": "ENST00000480942.1",
"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": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"dbsnp": "rs368563040",
"frequency_reference_population": 0.000022302815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000198385,
"gnomad_genomes_af": 0.0000459498,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.067,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000648437.1",
"gene_symbol": "RPS10",
"hgnc_id": 10383,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000639725.1",
"gene_symbol": "RPS10-NUDT3",
"hgnc_id": 49181,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Tyr68Tyr"
}
],
"clinvar_disease": "Diamond-Blackfan anemia,Diamond-Blackfan anemia 9,RPS10-related disorder,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Diamond-Blackfan anemia|not specified|Diamond-Blackfan anemia 9|RPS10-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}