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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: 12-53103650-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53103650&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53103650,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003578.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "NM_003578.4",
"protein_id": "NP_003569.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 522,
"cds_start": 73,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301466.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003578.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000301466.8",
"protein_id": "ENSP00000301466.3",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 522,
"cds_start": 73,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003578.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301466.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000869113.1",
"protein_id": "ENSP00000539172.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 570,
"cds_start": 73,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869113.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000869112.1",
"protein_id": "ENSP00000539171.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 515,
"cds_start": 73,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869112.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000869109.1",
"protein_id": "ENSP00000539168.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 486,
"cds_start": 73,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869109.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000869114.1",
"protein_id": "ENSP00000539173.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 471,
"cds_start": 73,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869114.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000869111.1",
"protein_id": "ENSP00000539170.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 466,
"cds_start": 73,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869111.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000869115.1",
"protein_id": "ENSP00000539174.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 435,
"cds_start": 73,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869115.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000869110.1",
"protein_id": "ENSP00000539169.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 379,
"cds_start": 73,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869110.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "ENST00000551896.5",
"protein_id": "ENSP00000450120.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 169,
"cds_start": 73,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551896.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "XM_047429671.1",
"protein_id": "XP_047285627.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 508,
"cds_start": 73,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429671.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "XM_047429672.1",
"protein_id": "XP_047285628.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 502,
"cds_start": 73,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429672.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "XM_047429673.1",
"protein_id": "XP_047285629.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 466,
"cds_start": 73,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429673.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "XM_047429674.1",
"protein_id": "XP_047285630.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 437,
"cds_start": 73,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429674.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg",
"transcript": "XM_047429675.1",
"protein_id": "XP_047285631.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 278,
"cds_start": 73,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429675.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"hgvs_c": "n.73T>C",
"hgvs_p": null,
"transcript": "ENST00000542365.1",
"protein_id": "ENSP00000442234.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000542365.1"
}
],
"gene_symbol": "SOAT2",
"gene_hgnc_id": 11178,
"dbsnp": "rs899171644",
"frequency_reference_population": 0.000015001618,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000159255,
"gnomad_genomes_af": 0.00000659048,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05784502625465393,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0541,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.392,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003578.4",
"gene_symbol": "SOAT2",
"hgnc_id": 11178,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Cys25Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}