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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: 1-204348495-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204348495&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204348495,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000272203.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+11199G>A",
"hgvs_p": null,
"transcript": "NM_014935.5",
"protein_id": "NP_055750.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": -4,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7412,
"mane_select": "ENST00000272203.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+11199G>A",
"hgvs_p": null,
"transcript": "ENST00000272203.8",
"protein_id": "ENSP00000272203.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": -4,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7412,
"mane_select": "NM_014935.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+11199G>A",
"hgvs_p": null,
"transcript": "ENST00000414478.1",
"protein_id": "ENSP00000402046.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+2385G>A",
"hgvs_p": null,
"transcript": "ENST00000713656.1",
"protein_id": "ENSP00000518958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": -4,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+11199G>A",
"hgvs_p": null,
"transcript": "ENST00000713657.1",
"protein_id": "ENSP00000518959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.218+19304G>A",
"hgvs_p": null,
"transcript": "ENST00000564627.3",
"protein_id": "ENSP00000490720.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.218+19304G>A",
"hgvs_p": null,
"transcript": "XM_011509297.4",
"protein_id": "XP_011507599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1297,
"cds_start": -4,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.62+2385G>A",
"hgvs_p": null,
"transcript": "XM_011509298.4",
"protein_id": "XP_011507600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1245,
"cds_start": -4,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.56+253G>A",
"hgvs_p": null,
"transcript": "XM_011509299.4",
"protein_id": "XP_011507601.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": -4,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.62+2385G>A",
"hgvs_p": null,
"transcript": "XM_047449454.1",
"protein_id": "XP_047305410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": -4,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.218+19304G>A",
"hgvs_p": null,
"transcript": "XM_047449455.1",
"protein_id": "XP_047305411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
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"cds_length": 3672,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 1,
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"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+11199G>A",
"hgvs_p": null,
"transcript": "XM_006711221.4",
"protein_id": "XP_006711284.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.-95+2389G>A",
"hgvs_p": null,
"transcript": "XM_011509304.4",
"protein_id": "XP_011507606.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.218+19304G>A",
"hgvs_p": null,
"transcript": "XM_047449459.1",
"protein_id": "XP_047305415.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.218+19304G>A",
"hgvs_p": null,
"transcript": "XM_047449460.1",
"protein_id": "XP_047305416.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PLEKHA6",
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"hgvs_c": "c.62+2385G>A",
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"transcript": "XM_047449461.1",
"protein_id": "XP_047305417.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 3,
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"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.218+19304G>A",
"hgvs_p": null,
"transcript": "XM_047449463.1",
"protein_id": "XP_047305419.1",
"transcript_support_level": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"hgvs_c": "c.218+19304G>A",
"hgvs_p": null,
"transcript": "XM_047449464.1",
"protein_id": "XP_047305420.1",
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"cdna_start": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PLEKHA6",
"gene_hgnc_id": 17053,
"dbsnp": "rs3126209",
"frequency_reference_population": 0.18094419,
"hom_count_reference_population": 2805,
"allele_count_reference_population": 27535,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.180944,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 27535,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2805,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.53,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "ENST00000272203.8",
"gene_symbol": "PLEKHA6",
"hgnc_id": 17053,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.-95+11199G>A",
"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
}