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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: 12-48047965-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48047965&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48047965,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000549518.6",
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1691+36C>T",
"hgvs_p": null,
"transcript": "NM_001267594.2",
"protein_id": "NP_001254523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "ENST00000549518.6",
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1691+36C>T",
"hgvs_p": null,
"transcript": "ENST00000549518.6",
"protein_id": "ENSP00000447328.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "NM_001267594.2",
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1691+36C>T",
"hgvs_p": null,
"transcript": "ENST00000448372.6",
"protein_id": "ENSP00000394791.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.*1429+36C>T",
"hgvs_p": null,
"transcript": "ENST00000552189.5",
"protein_id": "ENSP00000447593.1",
"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": 4967,
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1691+36C>T",
"hgvs_p": null,
"transcript": "NM_001267595.2",
"protein_id": "NP_001254524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4803,
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1691+36C>T",
"hgvs_p": null,
"transcript": "ENST00000549595.5",
"protein_id": "ENSP00000450076.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.2457+36C>T",
"hgvs_p": null,
"transcript": "NR_051991.1",
"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": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.2333+36C>T",
"hgvs_p": null,
"transcript": "NR_051992.2",
"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": 5002,
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1880+36C>T",
"hgvs_p": null,
"transcript": "XM_017019229.3",
"protein_id": "XP_016874718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5088,
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1841+36C>T",
"hgvs_p": null,
"transcript": "XM_017019230.3",
"protein_id": "XP_016874719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5049,
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1787+36C>T",
"hgvs_p": null,
"transcript": "XM_006719361.4",
"protein_id": "XP_006719424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": -4,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
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"cdna_length": 4995,
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1784+36C>T",
"hgvs_p": null,
"transcript": "XM_017019231.3",
"protein_id": "XP_016874720.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 675,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4896,
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1784+36C>T",
"hgvs_p": null,
"transcript": "XM_017019232.2",
"protein_id": "XP_016874721.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1748+36C>T",
"hgvs_p": null,
"transcript": "XM_011538244.4",
"protein_id": "XP_011536546.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1739+36C>T",
"hgvs_p": null,
"transcript": "XM_011538245.4",
"protein_id": "XP_011536547.1",
"transcript_support_level": null,
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"aa_length": 660,
"cds_start": -4,
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"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,
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"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1700+36C>T",
"hgvs_p": null,
"transcript": "XM_047428752.1",
"protein_id": "XP_047284708.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1670+36C>T",
"hgvs_p": null,
"transcript": "XM_017019233.3",
"protein_id": "XP_016874722.1",
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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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1670+36C>T",
"hgvs_p": null,
"transcript": "XM_017019234.3",
"protein_id": "XP_016874723.1",
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"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1670+36C>T",
"hgvs_p": null,
"transcript": "XM_017019235.2",
"protein_id": "XP_016874724.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1652+36C>T",
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"transcript": "XM_017019237.2",
"protein_id": "XP_016874726.1",
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"dbsnp": "rs12297820",
"frequency_reference_population": 0.088721395,
"hom_count_reference_population": 6273,
"allele_count_reference_population": 122103,
"gnomad_exomes_af": 0.0881272,
"gnomad_genomes_af": 0.0935046,
"gnomad_exomes_ac": 107883,
"gnomad_genomes_ac": 14220,
"gnomad_exomes_homalt": 5506,
"gnomad_genomes_homalt": 767,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.01,
"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": "ENST00000549518.6",
"gene_symbol": "SENP1",
"hgnc_id": 17927,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1691+36C>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
}