← Back to variant description
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: 1-12192981-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=12192981&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 12192981,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001066.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "NM_001066.3",
"protein_id": "NP_001057.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 461,
"cds_start": 670,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376259.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001066.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000376259.7",
"protein_id": "ENSP00000365435.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 461,
"cds_start": 670,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001066.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376259.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "n.659T>C",
"hgvs_p": null,
"transcript": "ENST00000492361.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000492361.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000941756.1",
"protein_id": "ENSP00000611815.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 498,
"cds_start": 670,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941756.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000857303.1",
"protein_id": "ENSP00000527362.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 484,
"cds_start": 670,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857303.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000857304.1",
"protein_id": "ENSP00000527363.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 483,
"cds_start": 670,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857304.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000941758.1",
"protein_id": "ENSP00000611817.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 474,
"cds_start": 670,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941758.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000941757.1",
"protein_id": "ENSP00000611816.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 473,
"cds_start": 670,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941757.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000857300.1",
"protein_id": "ENSP00000527359.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 462,
"cds_start": 670,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857300.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000857301.1",
"protein_id": "ENSP00000527360.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 454,
"cds_start": 670,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857301.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000941755.1",
"protein_id": "ENSP00000611814.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 435,
"cds_start": 670,
"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": "ENST00000941755.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "ENST00000941754.1",
"protein_id": "ENSP00000611813.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 355,
"cds_start": 670,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941754.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "XM_011542060.3",
"protein_id": "XP_011540362.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 484,
"cds_start": 670,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542060.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "XM_047429422.1",
"protein_id": "XP_047285378.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 483,
"cds_start": 670,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429422.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Ser217Pro",
"transcript": "XM_047429423.1",
"protein_id": "XP_047285379.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 477,
"cds_start": 649,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429423.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro",
"transcript": "XM_011542063.3",
"protein_id": "XP_011540365.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 462,
"cds_start": 670,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542063.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.517T>C",
"hgvs_p": "p.Ser173Pro",
"transcript": "XM_047429424.1",
"protein_id": "XP_047285380.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 433,
"cds_start": 517,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "c.79-8986T>C",
"hgvs_p": null,
"transcript": "ENST00000857302.1",
"protein_id": "ENSP00000527361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "TNFRSF1B",
"gene_hgnc_id": 11917,
"hgvs_c": "n.382T>C",
"hgvs_p": null,
"transcript": "ENST00000489921.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000489921.1"
}
],
"gene_symbol": "TNFRSF1B",
"gene_hgnc_id": 11917,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0727178156375885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.0612,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.677,
"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": 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_001066.3",
"gene_symbol": "TNFRSF1B",
"hgnc_id": 11917,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Ser224Pro"
}
],
"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
}