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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: 17-42950655-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42950655&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTGES3L-AARSD1",
"hgnc_id": 43946,
"hgvs_c": "c.1699C>T",
"hgvs_p": "p.Arg567Trp",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001136042.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AARSD1",
"hgnc_id": 28417,
"hgvs_c": "c.1177C>T",
"hgvs_p": "p.Arg393Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001261434.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 135,
"alphamissense_prediction": null,
"alphamissense_score": 0.2407,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3795051574707031,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001261434.2",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1177C>T",
"hgvs_p": "p.Arg393Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000427569.7",
"protein_coding": true,
"protein_id": "NP_001248363.1",
"strand": false,
"transcript": "NM_001261434.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000427569.7",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1177C>T",
"hgvs_p": "p.Arg393Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001261434.2",
"protein_coding": true,
"protein_id": "ENSP00000400870.1",
"strand": false,
"transcript": "ENST00000427569.7",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 543,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 2045,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000421990.7",
"gene_hgnc_id": 43946,
"gene_symbol": "PTGES3L-AARSD1",
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Arg524Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409924.2",
"strand": false,
"transcript": "ENST00000421990.7",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 586,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 2045,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1699,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001136042.2",
"gene_hgnc_id": 43946,
"gene_symbol": "PTGES3L-AARSD1",
"hgvs_c": "c.1699C>T",
"hgvs_p": "p.Arg567Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129514.2",
"strand": false,
"transcript": "NM_001136042.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 543,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000409399.6",
"gene_hgnc_id": 43946,
"gene_symbol": "PTGES3L-AARSD1",
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Arg524Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386621.2",
"strand": false,
"transcript": "ENST00000409399.6",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_025267.4",
"gene_hgnc_id": 43946,
"gene_symbol": "PTGES3L-AARSD1",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079543.1",
"strand": false,
"transcript": "NM_025267.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000360221.8",
"gene_hgnc_id": 43946,
"gene_symbol": "PTGES3L-AARSD1",
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353355.4",
"strand": false,
"transcript": "ENST00000360221.8",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1426,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000409103.5",
"gene_hgnc_id": 43946,
"gene_symbol": "PTGES3L-AARSD1",
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Arg476Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386254.1",
"strand": false,
"transcript": "ENST00000409103.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000871340.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.Arg402Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541399.1",
"strand": false,
"transcript": "ENST00000871340.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1317,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000871341.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Arg392Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541400.1",
"strand": false,
"transcript": "ENST00000871341.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 409,
"aa_ref": "R",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000935094.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605153.1",
"strand": false,
"transcript": "ENST00000935094.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1240,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1158,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000935095.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605154.1",
"strand": false,
"transcript": "ENST00000935095.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871343.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541402.1",
"strand": false,
"transcript": "ENST00000871343.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1122,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871338.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541397.1",
"strand": false,
"transcript": "ENST00000871338.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 368,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1107,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871345.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541404.1",
"strand": false,
"transcript": "ENST00000871345.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1030,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871344.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541403.1",
"strand": false,
"transcript": "ENST00000871344.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871339.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541398.1",
"strand": false,
"transcript": "ENST00000871339.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1050,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000935096.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Arg330Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605155.1",
"strand": false,
"transcript": "ENST00000935096.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1112,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1041,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000935097.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605156.1",
"strand": false,
"transcript": "ENST00000935097.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 133,
"aa_ref": "R",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 481,
"cdna_start": 354,
"cds_end": null,
"cds_length": 402,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871342.1",
"gene_hgnc_id": 28417,
"gene_symbol": "AARSD1",
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Arg114Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541401.1",
"strand": false,
"transcript": "ENST00000871342.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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