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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: 9-111718282-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=111718282&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 111718282,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001378211.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Ile713Thr",
"transcript": "NM_001378211.1",
"protein_id": "NP_001365140.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1508,
"cds_start": 2138,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682961.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378211.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Ile713Thr",
"transcript": "ENST00000682961.1",
"protein_id": "ENSP00000508388.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1508,
"cds_start": 2138,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378211.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682961.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1946T>C",
"hgvs_p": "p.Ile649Thr",
"transcript": "ENST00000318737.8",
"protein_id": "ENSP00000322108.4",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 1444,
"cds_start": 1946,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318737.8"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1823-3659T>C",
"hgvs_p": null,
"transcript": "ENST00000394777.8",
"protein_id": "ENSP00000378257.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1370,
"cds_start": null,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394777.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1946T>C",
"hgvs_p": "p.Ile649Thr",
"transcript": "NM_173521.5",
"protein_id": "NP_775792.5",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1444,
"cds_start": 1946,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173521.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1946T>C",
"hgvs_p": "p.Ile649Thr",
"transcript": "ENST00000374287.7",
"protein_id": "ENSP00000363405.3",
"transcript_support_level": 5,
"aa_start": 649,
"aa_end": null,
"aa_length": 1444,
"cds_start": 1946,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374287.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1829T>C",
"hgvs_p": "p.Ile610Thr",
"transcript": "NM_001080551.3",
"protein_id": "NP_001074020.3",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1405,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080551.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1829T>C",
"hgvs_p": "p.Ile610Thr",
"transcript": "ENST00000394779.7",
"protein_id": "ENSP00000378259.3",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 1405,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394779.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1946T>C",
"hgvs_p": "p.Ile649Thr",
"transcript": "XM_011518302.3",
"protein_id": "XP_011516604.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1444,
"cds_start": 1946,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518302.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1946T>C",
"hgvs_p": "p.Ile649Thr",
"transcript": "XM_011518303.2",
"protein_id": "XP_011516605.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1444,
"cds_start": 1946,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518303.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1799T>C",
"hgvs_p": "p.Ile600Thr",
"transcript": "XM_017014340.2",
"protein_id": "XP_016869829.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1395,
"cds_start": 1799,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014340.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1571T>C",
"hgvs_p": "p.Ile524Thr",
"transcript": "XM_011518306.2",
"protein_id": "XP_011516608.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 1319,
"cds_start": 1571,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518306.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1487T>C",
"hgvs_p": "p.Ile496Thr",
"transcript": "XM_047422865.1",
"protein_id": "XP_047278821.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 1291,
"cds_start": 1487,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422865.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Ile713Thr",
"transcript": "XM_047422866.1",
"protein_id": "XP_047278822.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2138,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422866.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Ile713Thr",
"transcript": "XM_011518309.2",
"protein_id": "XP_011516611.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2138,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518309.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Ile713Thr",
"transcript": "XM_017014341.2",
"protein_id": "XP_016869830.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2138,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014341.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Ile713Thr",
"transcript": "XM_047422867.1",
"protein_id": "XP_047278823.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 953,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422867.1"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.1823-3659T>C",
"hgvs_p": null,
"transcript": "NM_001378212.1",
"protein_id": "NP_001365141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1370,
"cds_start": null,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378212.1"
},
{
"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": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.2132-3659T>C",
"hgvs_p": null,
"transcript": "XM_006716975.3",
"protein_id": "XP_006717038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1473,
"cds_start": null,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716975.3"
},
{
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "c.2132-3659T>C",
"hgvs_p": null,
"transcript": "XM_047422868.1",
"protein_id": "XP_047278824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "n.2138T>C",
"hgvs_p": null,
"transcript": "ENST00000683944.1",
"protein_id": "ENSP00000507813.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000683944.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC1",
"gene_hgnc_id": 26535,
"hgvs_c": "n.2212T>C",
"hgvs_p": null,
"transcript": "NR_109816.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_109816.2"
}
],
"gene_symbol": "SHOC1",
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"dbsnp": "rs1322257",
"frequency_reference_population": 0.021789534,
"hom_count_reference_population": 1344,
"allele_count_reference_population": 34603,
"gnomad_exomes_af": 0.0182758,
"gnomad_genomes_af": 0.0549186,
"gnomad_exomes_ac": 26240,
"gnomad_genomes_ac": 8363,
"gnomad_exomes_homalt": 782,
"gnomad_genomes_homalt": 562,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001357734203338623,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.84,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": "NM_001378211.1",
"gene_symbol": "SHOC1",
"hgnc_id": 26535,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Ile713Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}