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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: 11-65965140-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65965140&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65965140,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005146.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "NM_005146.5",
"protein_id": "NP_005137.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 800,
"cds_start": 476,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312397.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005146.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "ENST00000312397.10",
"protein_id": "ENSP00000310448.5",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 800,
"cds_start": 476,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005146.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312397.10"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.488T>C",
"hgvs_p": "p.Met163Thr",
"transcript": "ENST00000972145.1",
"protein_id": "ENSP00000642204.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 804,
"cds_start": 488,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972145.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "ENST00000972146.1",
"protein_id": "ENSP00000642205.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 798,
"cds_start": 476,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972146.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "ENST00000972147.1",
"protein_id": "ENSP00000642206.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 796,
"cds_start": 476,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972147.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "ENST00000923550.1",
"protein_id": "ENSP00000593609.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 795,
"cds_start": 476,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923550.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "ENST00000872360.1",
"protein_id": "ENSP00000542419.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 793,
"cds_start": 476,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872360.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "ENST00000923551.1",
"protein_id": "ENSP00000593610.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 789,
"cds_start": 476,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923551.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "ENST00000923552.1",
"protein_id": "ENSP00000593611.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 788,
"cds_start": 476,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923552.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr",
"transcript": "XM_047427856.1",
"protein_id": "XP_047283812.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 547,
"cds_start": 476,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427856.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "n.570T>C",
"hgvs_p": null,
"transcript": "ENST00000529532.5",
"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": "retained_intron",
"feature": "ENST00000529532.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "n.*22T>C",
"hgvs_p": null,
"transcript": "ENST00000530251.1",
"protein_id": "ENSP00000436218.1",
"transcript_support_level": 5,
"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": "ENST00000530251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "n.*22T>C",
"hgvs_p": null,
"transcript": "ENST00000530251.1",
"protein_id": "ENSP00000436218.1",
"transcript_support_level": 5,
"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": "ENST00000530251.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"hgvs_c": "n.*11T>C",
"hgvs_p": null,
"transcript": "ENST00000528573.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000528573.1"
}
],
"gene_symbol": "SART1",
"gene_hgnc_id": 10538,
"dbsnp": "rs774314149",
"frequency_reference_population": 6.9042085e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90421e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15439444780349731,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.1622,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.439,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005146.5",
"gene_symbol": "SART1",
"hgnc_id": 10538,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Met159Thr"
}
],
"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
}