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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: 7-2264351-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2264351&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2264351,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_013321.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.729A>G",
"hgvs_p": "p.Ala243Ala",
"transcript": "NM_013321.4",
"protein_id": "NP_037453.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 465,
"cds_start": 729,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 4704,
"mane_select": "ENST00000222990.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013321.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.729A>G",
"hgvs_p": "p.Ala243Ala",
"transcript": "ENST00000222990.8",
"protein_id": "ENSP00000222990.3",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 465,
"cds_start": 729,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 4704,
"mane_select": "NM_013321.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222990.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.729A>G",
"hgvs_p": "p.Ala243Ala",
"transcript": "ENST00000926983.1",
"protein_id": "ENSP00000597042.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 464,
"cds_start": 729,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926983.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.729A>G",
"hgvs_p": "p.Ala243Ala",
"transcript": "ENST00000878404.1",
"protein_id": "ENSP00000548463.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 462,
"cds_start": 729,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878404.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.648A>G",
"hgvs_p": "p.Ala216Ala",
"transcript": "ENST00000878403.1",
"protein_id": "ENSP00000548462.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 438,
"cds_start": 648,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878403.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.405A>G",
"hgvs_p": "p.Ala135Ala",
"transcript": "ENST00000926984.1",
"protein_id": "ENSP00000597043.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 357,
"cds_start": 405,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926984.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.705A>G",
"hgvs_p": "p.Ala235Ala",
"transcript": "XM_011515329.3",
"protein_id": "XP_011513631.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 457,
"cds_start": 705,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515329.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.687A>G",
"hgvs_p": "p.Ala229Ala",
"transcript": "XM_011515330.3",
"protein_id": "XP_011513632.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 451,
"cds_start": 687,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515330.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.570A>G",
"hgvs_p": "p.Ala190Ala",
"transcript": "XM_017012084.3",
"protein_id": "XP_016867573.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 412,
"cds_start": 570,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012084.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.570A>G",
"hgvs_p": "p.Ala190Ala",
"transcript": "XM_047420281.1",
"protein_id": "XP_047276237.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 412,
"cds_start": 570,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420281.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "n.236A>G",
"hgvs_p": null,
"transcript": "ENST00000479689.1",
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479689.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.*15A>G",
"hgvs_p": null,
"transcript": "ENST00000435060.5",
"protein_id": "ENSP00000392437.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435060.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.*42A>G",
"hgvs_p": null,
"transcript": "ENST00000457286.5",
"protein_id": "ENSP00000406954.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457286.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"hgvs_c": "c.*89A>G",
"hgvs_p": null,
"transcript": "ENST00000435336.5",
"protein_id": "ENSP00000406212.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435336.5"
}
],
"gene_symbol": "SNX8",
"gene_hgnc_id": 14972,
"dbsnp": "rs2286206",
"frequency_reference_population": 0.941194,
"hom_count_reference_population": 716873,
"allele_count_reference_population": 1517905,
"gnomad_exomes_af": 0.946326,
"gnomad_genomes_af": 0.891959,
"gnomad_exomes_ac": 1382115,
"gnomad_genomes_ac": 135790,
"gnomad_exomes_homalt": 655706,
"gnomad_genomes_homalt": 61167,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.448,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_013321.4",
"gene_symbol": "SNX8",
"hgnc_id": 14972,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.729A>G",
"hgvs_p": "p.Ala243Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}