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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: 22-31619650-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31619650&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PISD",
"hgnc_id": 8999,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Gln398*",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001326411.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 409,
"aa_ref": "Q",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1192,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001326411.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Gln398*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439502.7",
"protein_coding": true,
"protein_id": "NP_001313340.1",
"strand": false,
"transcript": "NM_001326411.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 409,
"aa_ref": "Q",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1192,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000439502.7",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Gln398*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001326411.2",
"protein_coding": true,
"protein_id": "ENSP00000391739.2",
"strand": false,
"transcript": "ENST00000439502.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000266095.9",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000266095.5",
"strand": false,
"transcript": "ENST00000266095.9",
"transcript_support_level": 1
},
{
"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": 2534,
"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": "ENST00000460723.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "n.1375C>T",
"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": "ENST00000460723.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1215,
"cds_start": 1177,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930692.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1177C>T",
"hgvs_p": "p.Gln393*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600751.1",
"strand": false,
"transcript": "ENST00000930692.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 396,
"aa_ref": "Q",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1153,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892605.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Gln385*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562664.1",
"strand": false,
"transcript": "ENST00000892605.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 388,
"aa_ref": "Q",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1129,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001326412.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Gln377*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313341.1",
"strand": false,
"transcript": "NM_001326412.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 388,
"aa_ref": "Q",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1129,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001326413.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Gln377*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313342.1",
"strand": false,
"transcript": "NM_001326413.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 388,
"aa_ref": "Q",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1129,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001326414.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Gln377*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313343.1",
"strand": false,
"transcript": "NM_001326414.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 388,
"aa_ref": "Q",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1129,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892604.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Gln377*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562663.1",
"strand": false,
"transcript": "ENST00000892604.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001326415.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313344.1",
"strand": false,
"transcript": "NM_001326415.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326416.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313345.1",
"strand": false,
"transcript": "NM_001326416.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001326417.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313346.1",
"strand": false,
"transcript": "NM_001326417.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_014338.4",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055153.1",
"strand": false,
"transcript": "NM_014338.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_178022.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_821141.1",
"strand": false,
"transcript": "NM_178022.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000382151.6",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371586.2",
"strand": false,
"transcript": "ENST00000382151.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2265,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930690.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Gln364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600749.1",
"strand": false,
"transcript": "ENST00000930690.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "Q",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1086,
"cds_start": 1048,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000435900.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Gln350*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414395.1",
"strand": false,
"transcript": "ENST00000435900.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 349,
"aa_ref": "Q",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1050,
"cds_start": 1012,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001326418.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Gln338*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313347.1",
"strand": false,
"transcript": "NM_001326418.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 337,
"aa_ref": "Q",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1014,
"cds_start": 976,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001326419.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Gln326*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313348.1",
"strand": false,
"transcript": "NM_001326419.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 330,
"aa_ref": "Q",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 986,
"cds_end": null,
"cds_length": 993,
"cds_start": 955,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930689.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Gln319*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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