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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: 2-181902378-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=181902378&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 181902378,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000431877.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "NM_001130445.3",
"protein_id": "NP_001123917.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 1259,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": "ENST00000431877.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "ENST00000431877.7",
"protein_id": "ENSP00000388731.2",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 1259,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": "NM_001130445.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "ENST00000320370.11",
"protein_id": "ENSP00000314669.7",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 1256,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "ENST00000409001.5",
"protein_id": "ENSP00000387319.1",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.*862C>A",
"hgvs_p": null,
"transcript": "ENST00000416081.5",
"protein_id": "ENSP00000415625.1",
"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": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.*862C>A",
"hgvs_p": null,
"transcript": "ENST00000416081.5",
"protein_id": "ENSP00000415625.1",
"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": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "NM_006751.7",
"protein_id": "NP_006742.2",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 1256,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "NM_001287503.2",
"protein_id": "NP_001274432.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 1237,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.866C>A",
"hgvs_p": "p.Thr289Lys",
"transcript": "NM_001287504.2",
"protein_id": "NP_001274433.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 1084,
"cds_start": 866,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "XM_047445596.1",
"protein_id": "XP_047301552.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 1255,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "XM_005246813.3",
"protein_id": "XP_005246870.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 1252,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "XM_017004782.3",
"protein_id": "XP_016860271.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1325,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.866C>A",
"hgvs_p": "p.Thr289Lys",
"transcript": "XM_047445597.1",
"protein_id": "XP_047301553.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 1106,
"cds_start": 866,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "XM_011511701.4",
"protein_id": "XP_011510003.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 957,
"cds_start": 1325,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys",
"transcript": "XM_047445598.1",
"protein_id": "XP_047301554.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 948,
"cds_start": 1325,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.*862C>A",
"hgvs_p": null,
"transcript": "ENST00000440623.5",
"protein_id": "ENSP00000403754.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.*862C>A",
"hgvs_p": null,
"transcript": "ENST00000454579.5",
"protein_id": "ENSP00000392049.1",
"transcript_support_level": 2,
"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": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.657C>A",
"hgvs_p": null,
"transcript": "ENST00000491720.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 6473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.1662C>A",
"hgvs_p": null,
"transcript": "NR_109843.2",
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.1662C>A",
"hgvs_p": null,
"transcript": "XR_923000.4",
"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": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.*862C>A",
"hgvs_p": null,
"transcript": "ENST00000440623.5",
"protein_id": "ENSP00000403754.1",
"transcript_support_level": 2,
"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": 5420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"hgvs_c": "n.*862C>A",
"hgvs_p": null,
"transcript": "ENST00000454579.5",
"protein_id": "ENSP00000392049.1",
"transcript_support_level": 2,
"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": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITPRID2",
"gene_hgnc_id": 11319,
"dbsnp": "rs761942831",
"frequency_reference_population": 0.000002052621,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205262,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06749171018600464,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.12,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.432,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000431877.7",
"gene_symbol": "ITPRID2",
"hgnc_id": 11319,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1325C>A",
"hgvs_p": "p.Thr442Lys"
}
],
"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
}