← Back to variant description
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: 2-219473732-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219473732&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPEG",
"hgnc_id": 16901,
"hgvs_c": "c.4276C>G",
"hgvs_p": "p.Arg1426Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_005876.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2085,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3500467538833618,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3267,
"aa_ref": "R",
"aa_start": 1426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10782,
"cdna_start": 4411,
"cds_end": null,
"cds_length": 9804,
"cds_start": 4276,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_005876.5",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4276C>G",
"hgvs_p": "p.Arg1426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000312358.12",
"protein_coding": true,
"protein_id": "NP_005867.3",
"strand": true,
"transcript": "NM_005876.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3267,
"aa_ref": "R",
"aa_start": 1426,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10782,
"cdna_start": 4411,
"cds_end": null,
"cds_length": 9804,
"cds_start": 4276,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000312358.12",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4276C>G",
"hgvs_p": "p.Arg1426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005876.5",
"protein_coding": true,
"protein_id": "ENSP00000311684.7",
"strand": true,
"transcript": "ENST00000312358.12",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3277,
"aa_ref": "R",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10812,
"cdna_start": 4441,
"cds_end": null,
"cds_length": 9834,
"cds_start": 4306,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011510479.3",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4306C>G",
"hgvs_p": "p.Arg1436Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508781.1",
"strand": true,
"transcript": "XM_011510479.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3269,
"aa_ref": "R",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10840,
"cdna_start": 4441,
"cds_end": null,
"cds_length": 9810,
"cds_start": 4306,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047442891.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4306C>G",
"hgvs_p": "p.Arg1436Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298847.1",
"strand": true,
"transcript": "XM_047442891.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3218,
"aa_ref": "R",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10635,
"cdna_start": 4264,
"cds_end": null,
"cds_length": 9657,
"cds_start": 4129,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047442892.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4129C>G",
"hgvs_p": "p.Arg1377Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298848.1",
"strand": true,
"transcript": "XM_047442892.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3216,
"aa_ref": "R",
"aa_start": 1375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10629,
"cdna_start": 4258,
"cds_end": null,
"cds_length": 9651,
"cds_start": 4123,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047442893.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4123C>G",
"hgvs_p": "p.Arg1375Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298849.1",
"strand": true,
"transcript": "XM_047442893.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3208,
"aa_ref": "R",
"aa_start": 1367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10605,
"cdna_start": 4234,
"cds_end": null,
"cds_length": 9627,
"cds_start": 4099,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047442894.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4099C>G",
"hgvs_p": "p.Arg1367Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298850.1",
"strand": true,
"transcript": "XM_047442894.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3173,
"aa_ref": "R",
"aa_start": 1332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10373,
"cdna_start": 4002,
"cds_end": null,
"cds_length": 9522,
"cds_start": 3994,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_005246237.3",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.3994C>G",
"hgvs_p": "p.Arg1332Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246294.1",
"strand": true,
"transcript": "XM_005246237.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3163,
"aa_ref": "R",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10343,
"cdna_start": 3972,
"cds_end": null,
"cds_length": 9492,
"cds_start": 3964,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_006712189.4",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.3964C>G",
"hgvs_p": "p.Arg1322Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712252.1",
"strand": true,
"transcript": "XM_006712189.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3147,
"aa_ref": "R",
"aa_start": 1306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10422,
"cdna_start": 4051,
"cds_end": null,
"cds_length": 9444,
"cds_start": 3916,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047442895.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.3916C>G",
"hgvs_p": "p.Arg1306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298851.1",
"strand": true,
"transcript": "XM_047442895.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3114,
"aa_ref": "R",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10196,
"cdna_start": 3825,
"cds_end": null,
"cds_length": 9345,
"cds_start": 3817,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047442896.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.3817C>G",
"hgvs_p": "p.Arg1273Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298852.1",
"strand": true,
"transcript": "XM_047442896.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 3104,
"aa_ref": "R",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10166,
"cdna_start": 3795,
"cds_end": null,
"cds_length": 9315,
"cds_start": 3787,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047442897.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.3787C>G",
"hgvs_p": "p.Arg1263Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298853.1",
"strand": true,
"transcript": "XM_047442897.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2632,
"aa_ref": "R",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9250,
"cdna_start": 4441,
"cds_end": null,
"cds_length": 7899,
"cds_start": 4306,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017003159.3",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4306C>G",
"hgvs_p": "p.Arg1436Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858648.2",
"strand": true,
"transcript": "XM_017003159.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2480,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8315,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 7443,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_005246242.5",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.1915C>G",
"hgvs_p": "p.Arg639Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246299.1",
"strand": true,
"transcript": "XM_005246242.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2475,
"aa_ref": "R",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10201,
"cdna_start": 3830,
"cds_end": null,
"cds_length": 7428,
"cds_start": 1900,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_005246239.3",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.1900C>G",
"hgvs_p": "p.Arg634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246296.1",
"strand": true,
"transcript": "XM_005246239.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2475,
"aa_ref": "R",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10321,
"cdna_start": 3950,
"cds_end": null,
"cds_length": 7428,
"cds_start": 1900,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047442898.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.1900C>G",
"hgvs_p": "p.Arg634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298854.1",
"strand": true,
"transcript": "XM_047442898.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2475,
"aa_ref": "R",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8887,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 7428,
"cds_start": 1900,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047442900.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.1900C>G",
"hgvs_p": "p.Arg634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298856.1",
"strand": true,
"transcript": "XM_047442900.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2418,
"aa_ref": "R",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8392,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 7257,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_005246240.2",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.1729C>G",
"hgvs_p": "p.Arg577Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246297.1",
"strand": true,
"transcript": "XM_005246240.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2418,
"aa_ref": "R",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8414,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 7257,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_005246241.2",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.1729C>G",
"hgvs_p": "p.Arg577Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246298.1",
"strand": true,
"transcript": "XM_005246241.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 2418,
"aa_ref": "R",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8321,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 7257,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006712193.4",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.1729C>G",
"hgvs_p": "p.Arg577Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712256.1",
"strand": true,
"transcript": "XM_006712193.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1728,
"aa_ref": "R",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5428,
"cdna_start": 4441,
"cds_end": null,
"cds_length": 5187,
"cds_start": 4306,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047442901.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "c.4306C>G",
"hgvs_p": "p.Arg1436Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298857.1",
"strand": true,
"transcript": "XM_047442901.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000485069.1",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "n.1513C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000485069.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000485813.5",
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"hgvs_c": "n.3519C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000485813.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587777673",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16901,
"gene_symbol": "SPEG",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.437,
"pos": 219473732,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.26,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005876.5"
}
]
}