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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: 11-7568365-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=7568365&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 7568365,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000299492.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "NM_003621.5",
"protein_id": "NP_003612.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": "ENST00000299492.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "ENST00000299492.9",
"protein_id": "ENSP00000299492.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": "NM_003621.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "NM_001351853.2",
"protein_id": "NP_001338782.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": -4,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "ENST00000684123.1",
"protein_id": "ENSP00000507842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": -4,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "NM_001351854.2",
"protein_id": "NP_001338783.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 917,
"cds_start": -4,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "NM_001351855.2",
"protein_id": "NP_001338784.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 887,
"cds_start": -4,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "NM_001351856.2",
"protein_id": "NP_001338785.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "NM_001351862.2",
"protein_id": "NP_001338791.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "ENST00000527790.5",
"protein_id": "ENSP00000434981.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.141+2598T>C",
"hgvs_p": null,
"transcript": "ENST00000524548.5",
"protein_id": "ENSP00000433917.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "n.438+2598T>C",
"hgvs_p": null,
"transcript": "NR_147792.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "XM_006718349.4",
"protein_id": "XP_006718412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "XM_011520413.3",
"protein_id": "XP_011518715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "XM_011520414.3",
"protein_id": "XP_011518716.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "XM_005253177.4",
"protein_id": "XP_005253234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 916,
"cds_start": -4,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
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"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "XM_047427750.1",
"protein_id": "XP_047283706.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 3,
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"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "XM_011520415.4",
"protein_id": "XP_011518717.1",
"transcript_support_level": null,
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"aa_length": 900,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "XM_011520416.4",
"protein_id": "XP_011518718.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null,
"transcript": "XM_047427751.1",
"protein_id": "XP_047283707.1",
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"cdna_start": null,
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"cdna_length": 3522,
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"feature": null
}
],
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"dbsnp": "rs7932127",
"frequency_reference_population": 0.34163335,
"hom_count_reference_population": 10128,
"allele_count_reference_population": 51931,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.341633,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 51931,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10128,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.09,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000299492.9",
"gene_symbol": "PPFIBP2",
"hgnc_id": 9250,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.279+2598T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}