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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: 14-24238396-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24238396&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24238396,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001002002.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_001002002.3",
"protein_id": "NP_001002002.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 348,
"cds_start": 848,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": "ENST00000399440.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000399440.7",
"protein_id": "ENSP00000382369.2",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 348,
"cds_start": 848,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": "NM_001002002.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Ala301Val",
"transcript": "ENST00000557854.5",
"protein_id": "ENSP00000454038.1",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 427,
"cds_start": 902,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Ala301Val",
"transcript": "ENST00000420554.6",
"protein_id": "ENSP00000392859.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 366,
"cds_start": 902,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000355299.8",
"protein_id": "ENSP00000347449.4",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 348,
"cds_start": 848,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000559836.5",
"protein_id": "ENSP00000453299.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 348,
"cds_start": 848,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Ala255Val",
"transcript": "ENST00000456667.7",
"protein_id": "ENSP00000405743.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 320,
"cds_start": 764,
"cds_end": null,
"cds_length": 963,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1484,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000559287.5",
"protein_id": "ENSP00000453594.1",
"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": 1748,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*770C>T",
"hgvs_p": null,
"transcript": "ENST00000561038.5",
"protein_id": "ENSP00000452670.1",
"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": 2160,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000559287.5",
"protein_id": "ENSP00000453594.1",
"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": 1748,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "n.*770C>T",
"hgvs_p": null,
"transcript": "ENST00000561038.5",
"protein_id": "ENSP00000452670.1",
"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": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Ala301Val",
"transcript": "NM_001283022.2",
"protein_id": "NP_001269951.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 427,
"cds_start": 902,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_001351022.2",
"protein_id": "NP_001337951.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 409,
"cds_start": 848,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_001351023.2",
"protein_id": "NP_001337952.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 409,
"cds_start": 848,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "NM_001283021.2",
"protein_id": "NP_001269950.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 373,
"cds_start": 740,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Ala301Val",
"transcript": "NM_016576.5",
"protein_id": "NP_057660.2",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 366,
"cds_start": 902,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_001002000.3",
"protein_id": "NP_001002000.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 348,
"cds_start": 848,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "NM_001002001.3",
"protein_id": "NP_001002001.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 348,
"cds_start": 848,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ala268Val",
"transcript": "ENST00000559104.5",
"protein_id": "ENSP00000453355.1",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 333,
"cds_start": 803,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Ala255Val",
"transcript": "NM_001283023.2",
"protein_id": "NP_001269952.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 320,
"cds_start": 764,
"cds_end": null,
"cds_length": 963,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Ala250Val",
"transcript": "ENST00000559910.5",
"protein_id": "ENSP00000453537.1",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 315,
"cds_start": 749,
"cds_end": null,
"cds_length": 948,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "NM_001351024.2",
"protein_id": "NP_001337953.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 312,
"cds_start": 740,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPR2",
"gene_hgnc_id": 4377,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "NM_001351025.2",
"protein_id": "NP_001337954.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
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},
{
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}
],
"gene_symbol": "GMPR2",
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"dbsnp": "rs770775837",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7132768034934998,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.561,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5547,
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"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.829,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001002002.3",
"gene_symbol": "GMPR2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ala283Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000699682.1",
"gene_symbol": "TINF2",
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"effects": [
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],
"inheritance_mode": "AD",
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}
],
"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
}