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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: 1-91716394-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91716394&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 91716394,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000212355.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1708T>G",
"hgvs_p": "p.Phe570Val",
"transcript": "NM_003243.5",
"protein_id": "NP_003234.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 851,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 6339,
"mane_select": "ENST00000212355.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1708T>G",
"hgvs_p": "p.Phe570Val",
"transcript": "ENST00000212355.9",
"protein_id": "ENSP00000212355.4",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 851,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 6339,
"mane_select": "NM_003243.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1708T>G",
"hgvs_p": "p.Phe570Val",
"transcript": "ENST00000525962.5",
"protein_id": "ENSP00000436127.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 851,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1705T>G",
"hgvs_p": "p.Phe569Val",
"transcript": "ENST00000370399.6",
"protein_id": "ENSP00000359426.2",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 850,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1705T>G",
"hgvs_p": "p.Phe569Val",
"transcript": "ENST00000465892.6",
"protein_id": "ENSP00000432638.1",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 850,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2050,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*1655T>G",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*1672T>G",
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*1655T>G",
"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": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*1672T>G",
"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": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1705T>G",
"hgvs_p": "p.Phe569Val",
"transcript": "NM_001195683.2",
"protein_id": "NP_001182612.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 850,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1705T>G",
"hgvs_p": "p.Phe569Val",
"transcript": "NM_001195684.1",
"protein_id": "NP_001182613.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 850,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 6300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1708T>G",
"hgvs_p": "p.Phe570Val",
"transcript": "XM_006710867.3",
"protein_id": "XP_006710930.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 851,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 6187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1708T>G",
"hgvs_p": "p.Phe570Val",
"transcript": "XM_047429247.1",
"protein_id": "XP_047285203.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 851,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1708T>G",
"hgvs_p": "p.Phe570Val",
"transcript": "XM_047429254.1",
"protein_id": "XP_047285210.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 851,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 6434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1708T>G",
"hgvs_p": "p.Phe570Val",
"transcript": "XM_047429255.1",
"protein_id": "XP_047285211.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 851,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 6458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1705T>G",
"hgvs_p": "p.Phe569Val",
"transcript": "XM_047429256.1",
"protein_id": "XP_047285212.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 850,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1705T>G",
"hgvs_p": "p.Phe569Val",
"transcript": "XM_047429261.1",
"protein_id": "XP_047285217.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 850,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1705T>G",
"hgvs_p": "p.Phe569Val",
"transcript": "XM_047429271.1",
"protein_id": "XP_047285227.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 850,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 6456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.1042T>G",
"hgvs_p": "p.Phe348Val",
"transcript": "XM_047429273.1",
"protein_id": "XP_047285229.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 629,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1483,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.2192T>G",
"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": "rs751439439",
"frequency_reference_population": 0.00004584871,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.0000492527,
"gnomad_genomes_af": 0.0000131444,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6820659637451172,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.44,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.144,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0012761697396295,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000212355.9",
"gene_symbol": "TGFBR3",
"hgnc_id": 11774,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1708T>G",
"hgvs_p": "p.Phe570Val"
}
],
"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
}