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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: 2-201515105-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201515105&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201515105,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000439140.6",
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1507-19136A>T",
"hgvs_p": null,
"transcript": "NM_001168221.2",
"protein_id": "NP_001161693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1820,
"cds_start": -4,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": "ENST00000439140.6",
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1507-19136A>T",
"hgvs_p": null,
"transcript": "ENST00000439140.6",
"protein_id": "ENSP00000409937.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1820,
"cds_start": -4,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": "NM_001168221.2",
"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": 13,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1507-19136A>T",
"hgvs_p": null,
"transcript": "ENST00000286195.7",
"protein_id": "ENSP00000286195.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2104,
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1507-19136A>T",
"hgvs_p": null,
"transcript": "NM_152525.6",
"protein_id": "NP_689738.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2111,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1163-19136A>T",
"hgvs_p": null,
"transcript": "NM_001168216.2",
"protein_id": "NP_001161688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1163-19136A>T",
"hgvs_p": null,
"transcript": "ENST00000439802.5",
"protein_id": "ENSP00000400672.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1639,
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1510-19136A>T",
"hgvs_p": null,
"transcript": "XM_047443505.1",
"protein_id": "XP_047299461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1821,
"cds_start": -4,
"cds_end": null,
"cds_length": 5466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5705,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1441-19136A>T",
"hgvs_p": null,
"transcript": "XM_047443506.1",
"protein_id": "XP_047299462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1798,
"cds_start": -4,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5636,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1225-19136A>T",
"hgvs_p": null,
"transcript": "XM_047443507.1",
"protein_id": "XP_047299463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1726,
"cds_start": -4,
"cds_end": null,
"cds_length": 5181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5420,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1222-19136A>T",
"hgvs_p": null,
"transcript": "XM_047443508.1",
"protein_id": "XP_047299464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1725,
"cds_start": -4,
"cds_end": null,
"cds_length": 5178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5417,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1102-19136A>T",
"hgvs_p": null,
"transcript": "XM_047443509.1",
"protein_id": "XP_047299465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1685,
"cds_start": -4,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5297,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1033-19136A>T",
"hgvs_p": null,
"transcript": "XM_047443510.1",
"protein_id": "XP_047299466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1662,
"cds_start": -4,
"cds_end": null,
"cds_length": 4989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5228,
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1510-19136A>T",
"hgvs_p": null,
"transcript": "XM_006712331.4",
"protein_id": "XP_006712394.1",
"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,
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"cdna_length": 2114,
"mane_select": null,
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"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": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1509+20916A>T",
"hgvs_p": null,
"transcript": "XM_006712332.4",
"protein_id": "XP_006712395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
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"cdna_start": null,
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"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1506+20916A>T",
"hgvs_p": null,
"transcript": "XM_024452728.2",
"protein_id": "XP_024308496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2036,
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1391-19136A>T",
"hgvs_p": null,
"transcript": "XM_006712333.4",
"protein_id": "XP_006712396.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1391-19136A>T",
"hgvs_p": null,
"transcript": "XM_006712334.4",
"protein_id": "XP_006712397.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 471,
"cds_start": -4,
"cds_end": null,
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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,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1390+21035A>T",
"hgvs_p": null,
"transcript": "XM_006712335.5",
"protein_id": "XP_006712398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": -4,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
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"cdna_length": 1920,
"mane_select": null,
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"biotype": null,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1163-19136A>T",
"hgvs_p": null,
"transcript": "XM_011510736.3",
"protein_id": "XP_011509038.1",
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1163-27203A>T",
"hgvs_p": null,
"transcript": "XM_006712336.4",
"protein_id": "XP_006712399.1",
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"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "n.1558-19136A>T",
"hgvs_p": null,
"transcript": "XR_007069662.1",
"protein_id": null,
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"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": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"dbsnp": "rs59278883",
"frequency_reference_population": 0.13194343,
"hom_count_reference_population": 1877,
"allele_count_reference_population": 19929,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.131943,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 19929,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1877,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.489,
"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": "ENST00000439140.6",
"gene_symbol": "C2CD6",
"hgnc_id": 14438,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1507-19136A>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001168221.2",
"gene_symbol": "CATSPERT",
"hgnc_id": 14438,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1507-19136A>T",
"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
}