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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: 1-91719965-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91719965&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 91719965,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000212355.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ser447Ser",
"transcript": "NM_003243.5",
"protein_id": "NP_003234.2",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 6339,
"mane_select": "ENST00000212355.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ser447Ser",
"transcript": "ENST00000212355.9",
"protein_id": "ENSP00000212355.4",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 6339,
"mane_select": "NM_003243.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ser447Ser",
"transcript": "ENST00000525962.5",
"protein_id": "ENSP00000436127.1",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ser446Ser",
"transcript": "ENST00000370399.6",
"protein_id": "ENSP00000359426.2",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 850,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ser446Ser",
"transcript": "ENST00000465892.6",
"protein_id": "ENSP00000432638.1",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 850,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 2908,
"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": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*1288C>T",
"hgvs_p": null,
"transcript": "ENST00000532540.5",
"protein_id": "ENSP00000434994.1",
"transcript_support_level": 1,
"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": 3913,
"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": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*1305C>T",
"hgvs_p": null,
"transcript": "ENST00000533089.5",
"protein_id": "ENSP00000433477.1",
"transcript_support_level": 1,
"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": 6455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*1288C>T",
"hgvs_p": null,
"transcript": "ENST00000532540.5",
"protein_id": "ENSP00000434994.1",
"transcript_support_level": 1,
"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": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*1305C>T",
"hgvs_p": null,
"transcript": "ENST00000533089.5",
"protein_id": "ENSP00000433477.1",
"transcript_support_level": 1,
"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": 6455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ser446Ser",
"transcript": "NM_001195683.2",
"protein_id": "NP_001182612.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 850,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ser446Ser",
"transcript": "NM_001195684.1",
"protein_id": "NP_001182613.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 850,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 6300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ser447Ser",
"transcript": "XM_006710867.3",
"protein_id": "XP_006710930.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 6187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ser447Ser",
"transcript": "XM_047429247.1",
"protein_id": "XP_047285203.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ser447Ser",
"transcript": "XM_047429254.1",
"protein_id": "XP_047285210.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 6434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ser447Ser",
"transcript": "XM_047429255.1",
"protein_id": "XP_047285211.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 851,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 6458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ser446Ser",
"transcript": "XM_047429256.1",
"protein_id": "XP_047285212.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 850,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ser446Ser",
"transcript": "XM_047429261.1",
"protein_id": "XP_047285217.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 850,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Ser446Ser",
"transcript": "XM_047429271.1",
"protein_id": "XP_047285227.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 850,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 6456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Ser225Ser",
"transcript": "XM_047429273.1",
"protein_id": "XP_047285229.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 629,
"cds_start": 675,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 5727,
"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": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.713C>T",
"hgvs_p": null,
"transcript": "ENST00000529608.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 785,
"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": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.1825C>T",
"hgvs_p": null,
"transcript": "NR_036634.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"dbsnp": "rs2229500",
"frequency_reference_population": 0.018313242,
"hom_count_reference_population": 310,
"allele_count_reference_population": 29559,
"gnomad_exomes_af": 0.0185851,
"gnomad_genomes_af": 0.0157024,
"gnomad_exomes_ac": 27169,
"gnomad_genomes_ac": 2390,
"gnomad_exomes_homalt": 280,
"gnomad_genomes_homalt": 30,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.205,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000212355.9",
"gene_symbol": "TGFBR3",
"hgnc_id": 11774,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Ser447Ser"
}
],
"clinvar_disease": "TGFBR3-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "TGFBR3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}