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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: 2-219488262-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219488262&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219488262,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000312358.12",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7810C>G",
"hgvs_p": "p.Leu2604Val",
"transcript": "NM_005876.5",
"protein_id": "NP_005867.3",
"transcript_support_level": null,
"aa_start": 2604,
"aa_end": null,
"aa_length": 3267,
"cds_start": 7810,
"cds_end": null,
"cds_length": 9804,
"cdna_start": 7945,
"cdna_end": null,
"cdna_length": 10782,
"mane_select": "ENST00000312358.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7810C>G",
"hgvs_p": "p.Leu2604Val",
"transcript": "ENST00000312358.12",
"protein_id": "ENSP00000311684.7",
"transcript_support_level": 5,
"aa_start": 2604,
"aa_end": null,
"aa_length": 3267,
"cds_start": 7810,
"cds_end": null,
"cds_length": 9804,
"cdna_start": 7945,
"cdna_end": null,
"cdna_length": 10782,
"mane_select": "NM_005876.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7840C>G",
"hgvs_p": "p.Leu2614Val",
"transcript": "XM_011510479.3",
"protein_id": "XP_011508781.1",
"transcript_support_level": null,
"aa_start": 2614,
"aa_end": null,
"aa_length": 3277,
"cds_start": 7840,
"cds_end": null,
"cds_length": 9834,
"cdna_start": 7975,
"cdna_end": null,
"cdna_length": 10812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7840C>G",
"hgvs_p": "p.Leu2614Val",
"transcript": "XM_047442891.1",
"protein_id": "XP_047298847.1",
"transcript_support_level": null,
"aa_start": 2614,
"aa_end": null,
"aa_length": 3269,
"cds_start": 7840,
"cds_end": null,
"cds_length": 9810,
"cdna_start": 7975,
"cdna_end": null,
"cdna_length": 10840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7663C>G",
"hgvs_p": "p.Leu2555Val",
"transcript": "XM_047442892.1",
"protein_id": "XP_047298848.1",
"transcript_support_level": null,
"aa_start": 2555,
"aa_end": null,
"aa_length": 3218,
"cds_start": 7663,
"cds_end": null,
"cds_length": 9657,
"cdna_start": 7798,
"cdna_end": null,
"cdna_length": 10635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7657C>G",
"hgvs_p": "p.Leu2553Val",
"transcript": "XM_047442893.1",
"protein_id": "XP_047298849.1",
"transcript_support_level": null,
"aa_start": 2553,
"aa_end": null,
"aa_length": 3216,
"cds_start": 7657,
"cds_end": null,
"cds_length": 9651,
"cdna_start": 7792,
"cdna_end": null,
"cdna_length": 10629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7633C>G",
"hgvs_p": "p.Leu2545Val",
"transcript": "XM_047442894.1",
"protein_id": "XP_047298850.1",
"transcript_support_level": null,
"aa_start": 2545,
"aa_end": null,
"aa_length": 3208,
"cds_start": 7633,
"cds_end": null,
"cds_length": 9627,
"cdna_start": 7768,
"cdna_end": null,
"cdna_length": 10605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7528C>G",
"hgvs_p": "p.Leu2510Val",
"transcript": "XM_005246237.3",
"protein_id": "XP_005246294.1",
"transcript_support_level": null,
"aa_start": 2510,
"aa_end": null,
"aa_length": 3173,
"cds_start": 7528,
"cds_end": null,
"cds_length": 9522,
"cdna_start": 7536,
"cdna_end": null,
"cdna_length": 10373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7498C>G",
"hgvs_p": "p.Leu2500Val",
"transcript": "XM_006712189.4",
"protein_id": "XP_006712252.1",
"transcript_support_level": null,
"aa_start": 2500,
"aa_end": null,
"aa_length": 3163,
"cds_start": 7498,
"cds_end": null,
"cds_length": 9492,
"cdna_start": 7506,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7450C>G",
"hgvs_p": "p.Leu2484Val",
"transcript": "XM_047442895.1",
"protein_id": "XP_047298851.1",
"transcript_support_level": null,
"aa_start": 2484,
"aa_end": null,
"aa_length": 3147,
"cds_start": 7450,
"cds_end": null,
"cds_length": 9444,
"cdna_start": 7585,
"cdna_end": null,
"cdna_length": 10422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7351C>G",
"hgvs_p": "p.Leu2451Val",
"transcript": "XM_047442896.1",
"protein_id": "XP_047298852.1",
"transcript_support_level": null,
"aa_start": 2451,
"aa_end": null,
"aa_length": 3114,
"cds_start": 7351,
"cds_end": null,
"cds_length": 9345,
"cdna_start": 7359,
"cdna_end": null,
"cdna_length": 10196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.7321C>G",
"hgvs_p": "p.Leu2441Val",
"transcript": "XM_047442897.1",
"protein_id": "XP_047298853.1",
"transcript_support_level": null,
"aa_start": 2441,
"aa_end": null,
"aa_length": 3104,
"cds_start": 7321,
"cds_end": null,
"cds_length": 9315,
"cdna_start": 7329,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5449C>G",
"hgvs_p": "p.Leu1817Val",
"transcript": "XM_005246242.5",
"protein_id": "XP_005246299.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2480,
"cds_start": 5449,
"cds_end": null,
"cds_length": 7443,
"cdna_start": 5478,
"cdna_end": null,
"cdna_length": 8315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5434C>G",
"hgvs_p": "p.Leu1812Val",
"transcript": "XM_005246239.3",
"protein_id": "XP_005246296.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2475,
"cds_start": 5434,
"cds_end": null,
"cds_length": 7428,
"cdna_start": 7364,
"cdna_end": null,
"cdna_length": 10201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5434C>G",
"hgvs_p": "p.Leu1812Val",
"transcript": "XM_047442898.1",
"protein_id": "XP_047298854.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2475,
"cds_start": 5434,
"cds_end": null,
"cds_length": 7428,
"cdna_start": 7484,
"cdna_end": null,
"cdna_length": 10321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5434C>G",
"hgvs_p": "p.Leu1812Val",
"transcript": "XM_047442900.1",
"protein_id": "XP_047298856.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2475,
"cds_start": 5434,
"cds_end": null,
"cds_length": 7428,
"cdna_start": 6050,
"cdna_end": null,
"cdna_length": 8887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5263C>G",
"hgvs_p": "p.Leu1755Val",
"transcript": "XM_005246240.2",
"protein_id": "XP_005246297.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2418,
"cds_start": 5263,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 5555,
"cdna_end": null,
"cdna_length": 8392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5263C>G",
"hgvs_p": "p.Leu1755Val",
"transcript": "XM_005246241.2",
"protein_id": "XP_005246298.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2418,
"cds_start": 5263,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 8414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5263C>G",
"hgvs_p": "p.Leu1755Val",
"transcript": "XM_006712193.4",
"protein_id": "XP_006712256.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 2418,
"cds_start": 5263,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 5484,
"cdna_end": null,
"cdna_length": 8321,
"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": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "n.7053C>G",
"hgvs_p": null,
"transcript": "ENST00000485813.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 9854,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASIC4-AS1",
"gene_hgnc_id": 40960,
"hgvs_c": "n.183-5853G>C",
"hgvs_p": null,
"transcript": "ENST00000429882.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 519,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASIC4-AS1",
"gene_hgnc_id": 40960,
"hgvs_c": "n.392-5853G>C",
"hgvs_p": null,
"transcript": "XR_923921.2",
"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": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.*1305C>G",
"hgvs_p": null,
"transcript": "XM_017003159.3",
"protein_id": "XP_016858648.2",
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"aa_start": null,
"aa_end": null,
"aa_length": 2632,
"cds_start": -4,
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"cds_length": 7899,
"cdna_start": null,
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"cdna_length": 9250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"dbsnp": "rs77314619",
"frequency_reference_population": 0.0000020531015,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020531,
"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": 0.4641232490539551,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.21,
"revel_prediction": "Benign",
"alphamissense_score": 0.3815,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.128,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000312358.12",
"gene_symbol": "SPEG",
"hgnc_id": 16901,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7810C>G",
"hgvs_p": "p.Leu2604Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000429882.1",
"gene_symbol": "ASIC4-AS1",
"hgnc_id": 40960,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183-5853G>C",
"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
}