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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: 6-106099528-GGA-CGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=106099528&ref=GGA&alt=CGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRDM1",
"hgnc_id": 9346,
"hgvs_c": "c.640_642delGGAinsCGT",
"hgvs_p": "p.Gly214Arg",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001198.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ATG5",
"hgnc_id": 589,
"hgvs_c": "c.458-52705_458-52703delTCCinsACG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000636437.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 825,
"aa_ref": "G",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5148,
"cdna_start": 858,
"cds_end": null,
"cds_length": 2478,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198.4",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.640_642delGGAinsCGT",
"hgvs_p": "p.Gly214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369096.9",
"protein_coding": true,
"protein_id": "NP_001189.2",
"strand": true,
"transcript": "NM_001198.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 825,
"aa_ref": "G",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5148,
"cdna_start": 858,
"cds_end": null,
"cds_length": 2478,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369096.9",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.640_642delGGAinsCGT",
"hgvs_p": "p.Gly214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001198.4",
"protein_coding": true,
"protein_id": "ENSP00000358092.4",
"strand": true,
"transcript": "ENST00000369096.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 789,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 752,
"cds_end": null,
"cds_length": 2370,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369091.6",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.532_534delGGAinsCGT",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358087.2",
"strand": true,
"transcript": "ENST00000369091.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 691,
"aa_ref": "G",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 384,
"cds_end": null,
"cds_length": 2076,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369089.3",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.238_240delGGAinsCGT",
"hgvs_p": "p.Gly80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358085.3",
"strand": true,
"transcript": "ENST00000369089.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 839,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": 942,
"cds_end": null,
"cds_length": 2520,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648754.1",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.682_684delGGAinsCGT",
"hgvs_p": "p.Gly228Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498029.1",
"strand": true,
"transcript": "ENST00000648754.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 789,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5070,
"cdna_start": 779,
"cds_end": null,
"cds_length": 2370,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651185.1",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.532_534delGGAinsCGT",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498716.1",
"strand": true,
"transcript": "ENST00000651185.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 789,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5066,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2370,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652320.1",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.532_534delGGAinsCGT",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498580.1",
"strand": true,
"transcript": "ENST00000652320.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 782,
"aa_ref": "G",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4216,
"cdna_start": 880,
"cds_end": null,
"cds_length": 2349,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967211.1",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.640_642delGGAinsCGT",
"hgvs_p": "p.Gly214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637270.1",
"strand": true,
"transcript": "ENST00000967211.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 691,
"aa_ref": "G",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 383,
"cds_end": null,
"cds_length": 2076,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182907.3",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.238_240delGGAinsCGT",
"hgvs_p": "p.Gly80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_878911.1",
"strand": true,
"transcript": "NM_182907.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 170,
"aa_ref": "G",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 583,
"cdna_start": 345,
"cds_end": null,
"cds_length": 515,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450060.5",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.277_279delGGAinsCGT",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399772.1",
"strand": true,
"transcript": "ENST00000450060.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 839,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2520,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011536062.4",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.682_684delGGAinsCGT",
"hgvs_p": "p.Gly228Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534364.1",
"strand": true,
"transcript": "XM_011536062.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 796,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4936,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2391,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006715550.4",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.682_684delGGAinsCGT",
"hgvs_p": "p.Gly228Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715613.1",
"strand": true,
"transcript": "XM_006715550.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 789,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 727,
"cds_end": null,
"cds_length": 2370,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017011187.2",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.532_534delGGAinsCGT",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866676.1",
"strand": true,
"transcript": "XM_017011187.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 789,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5179,
"cdna_start": 889,
"cds_end": null,
"cds_length": 2370,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419246.1",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.532_534delGGAinsCGT",
"hgvs_p": "p.Gly178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275202.1",
"strand": true,
"transcript": "XM_047419246.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 782,
"aa_ref": "G",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 858,
"cds_end": null,
"cds_length": 2349,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419247.1",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.640_642delGGAinsCGT",
"hgvs_p": "p.Gly214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275203.1",
"strand": true,
"transcript": "XM_047419247.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 667,
"aa_ref": "G",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 354,
"cds_end": null,
"cds_length": 2004,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011536064.4",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.166_168delGGAinsCGT",
"hgvs_p": "p.Gly56Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534366.1",
"strand": true,
"transcript": "XM_011536064.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 648,
"aa_ref": "G",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1947,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419248.1",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "c.238_240delGGAinsCGT",
"hgvs_p": "p.Gly80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275204.1",
"strand": true,
"transcript": "XM_047419248.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 153,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": null,
"cds_end": null,
"cds_length": 462,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636437.1",
"gene_hgnc_id": 589,
"gene_symbol": "ATG5",
"hgvs_c": "c.458-52705_458-52703delTCCinsACG",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490376.1",
"strand": false,
"transcript": "ENST00000636437.1",
"transcript_support_level": 5
},
{
"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": 580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000481163.1",
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
"hgvs_c": "n.399_401delGGAinsCGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481163.1",
"transcript_support_level": 3
},
{
"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": 1219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636335.1",
"gene_hgnc_id": 589,
"gene_symbol": "ATG5",
"hgvs_c": "n.458-21215_458-21213delTCCinsACG",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490221.1",
"strand": false,
"transcript": "ENST00000636335.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 9346,
"gene_symbol": "PRDM1",
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}
]
}