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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: 6-104784998-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=104784998&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "HACE1",
"hgnc_id": 21033,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Gln466*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_020771.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Spastic paraplegia-severe developmental delay-epilepsy syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 909,
"aa_ref": "Q",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4575,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1396,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_020771.4",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Gln466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262903.9",
"protein_coding": true,
"protein_id": "NP_065822.2",
"strand": false,
"transcript": "NM_020771.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 909,
"aa_ref": "Q",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4575,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1396,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000262903.9",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Gln466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020771.4",
"protein_coding": true,
"protein_id": "ENSP00000262903.4",
"strand": false,
"transcript": "ENST00000262903.9",
"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": 5318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000369127.8",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "n.2417C>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": "ENST00000369127.8",
"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": 4729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000416605.6",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "n.*953C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392425.2",
"strand": false,
"transcript": "ENST00000416605.6",
"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": 4729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000416605.6",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "n.*953C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392425.2",
"strand": false,
"transcript": "ENST00000416605.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 920,
"aa_ref": "Q",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 2763,
"cds_start": 1429,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000851410.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Gln477*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521469.1",
"strand": false,
"transcript": "ENST00000851410.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 907,
"aa_ref": "Q",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 2724,
"cds_start": 1396,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000851409.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Gln466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521468.1",
"strand": false,
"transcript": "ENST00000851409.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 884,
"aa_ref": "Q",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1396,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000950221.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Gln466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620280.1",
"strand": false,
"transcript": "ENST00000950221.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 879,
"aa_ref": "Q",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1306,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000914227.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Gln436*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584286.1",
"strand": false,
"transcript": "ENST00000914227.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 877,
"aa_ref": "Q",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2634,
"cds_start": 1306,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000950219.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Gln436*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620278.1",
"strand": false,
"transcript": "ENST00000950219.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 876,
"aa_ref": "Q",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 2631,
"cds_start": 1297,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000914226.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584285.1",
"strand": false,
"transcript": "ENST00000914226.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 875,
"aa_ref": "Q",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1294,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001321083.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Gln432*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308012.1",
"strand": false,
"transcript": "NM_001321083.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4427,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2616,
"cds_start": 1396,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000950220.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Gln466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620279.1",
"strand": false,
"transcript": "ENST00000950220.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 865,
"aa_ref": "Q",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1264,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001321080.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308009.1",
"strand": false,
"transcript": "NM_001321080.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 835,
"aa_ref": "Q",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1174,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000851408.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Gln392*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521467.1",
"strand": false,
"transcript": "ENST00000851408.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Q",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 2496,
"cds_start": 1162,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350554.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1162C>T",
"hgvs_p": "p.Gln388*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337483.1",
"strand": false,
"transcript": "NM_001350554.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 812,
"aa_ref": "Q",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4284,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1105,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001350555.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Gln369*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337484.1",
"strand": false,
"transcript": "NM_001350555.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 812,
"aa_ref": "Q",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4269,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1105,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000851407.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Gln369*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521466.1",
"strand": false,
"transcript": "ENST00000851407.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 777,
"aa_ref": "Q",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1000,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950222.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Gln334*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620281.1",
"strand": false,
"transcript": "ENST00000950222.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 747,
"aa_ref": "Q",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 2244,
"cds_start": 910,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350556.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Gln304*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337485.1",
"strand": false,
"transcript": "NM_001350556.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 741,
"aa_ref": "Q",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2226,
"cds_start": 892,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001321084.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.892C>T",
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