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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: 21-41470061-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41470061&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41470061,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000332149.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "NM_005656.4",
"protein_id": "NP_005647.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": "ENST00000332149.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "ENST00000332149.10",
"protein_id": "ENSP00000330330.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": "NM_005656.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "ENST00000454499.6",
"protein_id": "ENSP00000389006.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.*1708G>A",
"hgvs_p": null,
"transcript": "ENST00000679386.1",
"protein_id": "ENSP00000505700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1330+587C>T",
"hgvs_p": null,
"transcript": "ENST00000679263.1",
"protein_id": "ENSP00000504602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": -4,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1282+587C>T",
"hgvs_p": null,
"transcript": "NM_001135099.1",
"protein_id": "NP_001128571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1282+587C>T",
"hgvs_p": null,
"transcript": "ENST00000398585.7",
"protein_id": "ENSP00000381588.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "NM_001382720.1",
"protein_id": "NP_001369649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "ENST00000678171.1",
"protein_id": "ENSP00000503877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "ENST00000458356.6",
"protein_id": "ENSP00000391216.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "ENST00000676973.1",
"protein_id": "ENSP00000504705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "ENST00000678348.1",
"protein_id": "ENSP00000503556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null,
"transcript": "ENST00000679054.1",
"protein_id": "ENSP00000502928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.1051+587C>T",
"hgvs_p": null,
"transcript": "ENST00000424093.6",
"protein_id": "ENSP00000397846.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.964+587C>T",
"hgvs_p": null,
"transcript": "ENST00000679016.1",
"protein_id": "ENSP00000504610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
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"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "c.847+587C>T",
"hgvs_p": null,
"transcript": "ENST00000678743.1",
"protein_id": "ENSP00000503377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "n.*588+587C>T",
"hgvs_p": null,
"transcript": "ENST00000677680.1",
"protein_id": "ENSP00000504526.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "n.1410+587C>T",
"hgvs_p": null,
"transcript": "ENST00000678617.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "n.*903+587C>T",
"hgvs_p": null,
"transcript": "ENST00000678959.1",
"protein_id": "ENSP00000503114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_length": 3326,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"hgvs_c": "n.1171+587C>T",
"hgvs_p": null,
"transcript": "ENST00000679181.1",
"protein_id": "ENSP00000504238.1",
"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": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMPRSS2",
"gene_hgnc_id": 11876,
"dbsnp": "rs2070788",
"frequency_reference_population": 0.58612704,
"hom_count_reference_population": 26653,
"allele_count_reference_population": 89096,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.586127,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 89096,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 26653,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.619,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000332149.10",
"gene_symbol": "TMPRSS2",
"hgnc_id": 11876,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1171+587C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000679386.1",
"gene_symbol": "MX1",
"hgnc_id": 7532,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1708G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}