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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: 14-57564178-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=57564178&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35F4",
"hgnc_id": 19845,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Gly472Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001306087.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105370519",
"hgnc_id": null,
"hgvs_c": "n.1111-65C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007064194.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2954,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21568948030471802,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 485,
"aa_ref": "G",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001306087.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Gly472Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000556826.6",
"protein_coding": true,
"protein_id": "NP_001293016.1",
"strand": false,
"transcript": "NM_001306087.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 485,
"aa_ref": "G",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000556826.6",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Gly472Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001306087.2",
"protein_coding": true,
"protein_id": "ENSP00000452086.1",
"strand": false,
"transcript": "ENST00000556826.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 362,
"aa_ref": "G",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000554729.5",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Gly349Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451990.1",
"strand": false,
"transcript": "ENST00000554729.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000557254.5",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "n.*776G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450836.1",
"strand": false,
"transcript": "ENST00000557254.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000557254.5",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "n.*776G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450836.1",
"strand": false,
"transcript": "ENST00000557254.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 521,
"aa_ref": "G",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1523,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000339762.10",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Gly508Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342518.6",
"strand": false,
"transcript": "ENST00000339762.10",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 484,
"aa_ref": "G",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1412,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001206920.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1412G>A",
"hgvs_p": "p.Gly471Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193849.1",
"strand": false,
"transcript": "NM_001206920.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 482,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001352015.3",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1406G>A",
"hgvs_p": "p.Gly469Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338944.1",
"strand": false,
"transcript": "NM_001352015.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 463,
"aa_ref": "G",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001352012.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Gly450Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338941.1",
"strand": false,
"transcript": "NM_001352012.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 362,
"aa_ref": "G",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001352014.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Gly349Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338943.1",
"strand": false,
"transcript": "NM_001352014.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 211,
"aa_ref": "G",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 636,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001352013.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Gly198Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338942.1",
"strand": false,
"transcript": "NM_001352013.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 532,
"aa_ref": "G",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3101,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011536720.4",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Gly519Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535022.1",
"strand": false,
"transcript": "XM_011536720.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 531,
"aa_ref": "G",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 2840,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1553,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011536721.4",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Gly518Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535023.1",
"strand": false,
"transcript": "XM_011536721.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 472,
"aa_ref": "G",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2839,
"cdna_start": 2581,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011536723.4",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Gly459Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535025.1",
"strand": false,
"transcript": "XM_011536723.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 2334,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011536724.4",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Gly454Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535026.1",
"strand": false,
"transcript": "XM_011536724.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 227,
"aa_ref": "G",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 3910,
"cds_end": null,
"cds_length": 684,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431343.1",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Gly214Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287299.1",
"strand": false,
"transcript": "XM_047431343.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 211,
"aa_ref": "G",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1056,
"cdna_start": 798,
"cds_end": null,
"cds_length": 636,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024449561.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Gly198Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305329.1",
"strand": false,
"transcript": "XM_024449561.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_159373.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "n.1973G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_159373.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_159374.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "n.1348G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_159374.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_159375.2",
"gene_hgnc_id": 19845,
"gene_symbol": "SLC35F4",
"hgvs_c": "n.1537G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_159375.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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