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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: 12-54974461-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54974461&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54974461,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000449076.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "NM_001136030.3",
"protein_id": "NP_001129502.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": "ENST00000449076.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000449076.6",
"protein_id": "ENSP00000400892.1",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": "NM_001136030.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000316577.12",
"protein_id": "ENSP00000312679.8",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "NM_001098815.3",
"protein_id": "NP_001092285.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "NM_001351149.2",
"protein_id": "NP_001338078.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000524668.5",
"protein_id": "ENSP00000436635.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 81,
"cds_start": 102,
"cds_end": null,
"cds_length": 246,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "ENST00000533607.1",
"protein_id": "ENSP00000433895.1",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 46,
"cds_start": 102,
"cds_end": null,
"cds_length": 143,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_006719715.4",
"protein_id": "XP_006719778.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_011539035.3",
"protein_id": "XP_011537337.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_011539037.4",
"protein_id": "XP_011537339.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_017020262.2",
"protein_id": "XP_016875751.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_017020263.2",
"protein_id": "XP_016875752.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_047429929.1",
"protein_id": "XP_047285885.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_047429930.1",
"protein_id": "XP_047285886.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"transcript": "XM_047429931.1",
"protein_id": "XP_047285887.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 521,
"cds_start": 102,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 4889,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "n.96C>T",
"hgvs_p": null,
"transcript": "ENST00000525978.5",
"protein_id": "ENSP00000434039.1",
"transcript_support_level": 3,
"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": 655,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "n.498C>T",
"hgvs_p": null,
"transcript": "NR_147062.2",
"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": 4393,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "n.325C>T",
"hgvs_p": null,
"transcript": "NR_147063.2",
"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": 4220,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "n.314C>T",
"hgvs_p": null,
"transcript": "NR_147064.2",
"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,
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"cdna_length": 4209,
"mane_select": null,
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"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "n.2718C>T",
"hgvs_p": null,
"transcript": "XR_007063146.1",
"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": 6613,
"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": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"hgvs_c": "n.582C>T",
"hgvs_p": null,
"transcript": "XR_007063147.1",
"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": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TESPA1",
"gene_hgnc_id": 29109,
"dbsnp": "rs4758993",
"frequency_reference_population": 0.24417578,
"hom_count_reference_population": 59339,
"allele_count_reference_population": 392452,
"gnomad_exomes_af": 0.243336,
"gnomad_genomes_af": 0.252212,
"gnomad_exomes_ac": 354092,
"gnomad_genomes_ac": 38360,
"gnomad_exomes_homalt": 53464,
"gnomad_genomes_homalt": 5875,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"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": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.793,
"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": "ENST00000449076.6",
"gene_symbol": "TESPA1",
"hgnc_id": 29109,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}