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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: 19-12677317-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12677317&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DHPS",
"hgnc_id": 2869,
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001930.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000285589",
"hgnc_id": null,
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000648033.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.339,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7887494564056396,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1110,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001930.4",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000210060.12",
"protein_coding": true,
"protein_id": "NP_001921.1",
"strand": false,
"transcript": "NM_001930.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1110,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000210060.12",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001930.4",
"protein_coding": true,
"protein_id": "ENSP00000210060.6",
"strand": false,
"transcript": "ENST00000210060.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 322,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 763,
"cds_end": null,
"cds_length": 969,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000351660.9",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000221303.5",
"strand": false,
"transcript": "ENST00000351660.9",
"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": 1176,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000601537.5",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "n.758C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000472122.1",
"strand": false,
"transcript": "ENST00000601537.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000648033.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285589",
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498000.1",
"strand": false,
"transcript": "ENST00000648033.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000648033.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285589",
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498000.1",
"strand": false,
"transcript": "ENST00000648033.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 369,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1363,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1110,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949481.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619540.1",
"strand": false,
"transcript": "ENST00000949481.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 366,
"aa_ref": "P",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1101,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000917713.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Pro250Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587772.1",
"strand": false,
"transcript": "ENST00000917713.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1092,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001369691.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356620.1",
"strand": false,
"transcript": "NM_001369691.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 362,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 865,
"cds_end": null,
"cds_length": 1089,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862636.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Pro246Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532695.1",
"strand": false,
"transcript": "ENST00000862636.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 350,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1267,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1053,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000917717.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587776.1",
"strand": false,
"transcript": "ENST00000917717.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 340,
"aa_ref": "P",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1023,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862639.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Pro224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532698.1",
"strand": false,
"transcript": "ENST00000862639.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 332,
"aa_ref": "P",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 732,
"cds_end": null,
"cds_length": 999,
"cds_start": 647,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949482.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Pro216Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619541.1",
"strand": false,
"transcript": "ENST00000949482.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 889,
"cds_end": null,
"cds_length": 984,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001206974.2",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Pro211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193903.1",
"strand": false,
"transcript": "NM_001206974.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1172,
"cdna_start": 725,
"cds_end": null,
"cds_length": 984,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000594424.5",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Pro211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471886.1",
"strand": false,
"transcript": "ENST00000594424.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 322,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": 872,
"cds_end": null,
"cds_length": 969,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_013406.3",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_037538.1",
"strand": false,
"transcript": "NM_013406.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1157,
"cdna_start": 872,
"cds_end": null,
"cds_length": 927,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862638.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532697.1",
"strand": false,
"transcript": "ENST00000862638.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 293,
"aa_ref": "P",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 782,
"cds_end": null,
"cds_length": 882,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000917714.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Pro224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587773.1",
"strand": false,
"transcript": "ENST00000917714.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "P",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": 872,
"cds_end": null,
"cds_length": 807,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001369692.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Pro253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356621.1",
"strand": false,
"transcript": "NM_001369692.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 212,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": 385,
"cds_end": null,
"cds_length": 639,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862640.1",
"gene_hgnc_id": 2869,
"gene_symbol": "DHPS",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532699.1",
"strand": false,
"transcript": "ENST00000862640.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 186,
"aa_ref": "P",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 837,
"cds_end": null,
"cds_length": 561,
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"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.698,
"pos": 12677317,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.399,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001930.4"
}
]
}