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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: 5-132862507-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132862507&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132862507,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000687138.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Thr149Thr",
"transcript": "NM_005260.7",
"protein_id": "NP_005251.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 454,
"cds_start": 447,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": "ENST00000687138.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Thr149Thr",
"transcript": "ENST00000687138.1",
"protein_id": "ENSP00000510441.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 454,
"cds_start": 447,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": "NM_005260.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.-88C>T",
"hgvs_p": null,
"transcript": "XM_011543311.4",
"protein_id": "XP_011541613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Thr149Thr",
"transcript": "ENST00000378673.2",
"protein_id": "ENSP00000367942.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 454,
"cds_start": 447,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Thr149Thr",
"transcript": "ENST00000464378.2",
"protein_id": "ENSP00000509893.1",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 454,
"cds_start": 447,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001288824.4",
"protein_id": "NP_001275753.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001288825.4",
"protein_id": "NP_001275754.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001288826.3",
"protein_id": "NP_001275755.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001288827.3",
"protein_id": "NP_001275756.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001288828.3",
"protein_id": "NP_001275757.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000296875.4",
"protein_id": "ENSP00000296875.3",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000621295.5",
"protein_id": "ENSP00000484339.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000624492.4",
"protein_id": "ENSP00000485037.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000624495.4",
"protein_id": "ENSP00000485231.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Thr54Thr",
"transcript": "ENST00000687214.1",
"protein_id": "ENSP00000509237.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 359,
"cds_start": 162,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Thr149Thr",
"transcript": "XM_011543308.4",
"protein_id": "XP_011541610.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 454,
"cds_start": 447,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Thr149Thr",
"transcript": "XM_047417094.1",
"protein_id": "XP_047273050.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 454,
"cds_start": 447,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "XM_005271957.6",
"protein_id": "XP_005272014.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "XM_011543309.2",
"protein_id": "XP_011541611.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "XM_011543310.2",
"protein_id": "XP_011541612.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 366,
"cds_start": 183,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"hgvs_c": "c.-88C>T",
"hgvs_p": null,
"transcript": "XM_011543311.4",
"protein_id": "XP_011541613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"dbsnp": "rs254286",
"frequency_reference_population": 0.5585016,
"hom_count_reference_population": 255682,
"allele_count_reference_population": 898848,
"gnomad_exomes_af": 0.564725,
"gnomad_genomes_af": 0.498829,
"gnomad_exomes_ac": 823029,
"gnomad_genomes_ac": 75819,
"gnomad_exomes_homalt": 235922,
"gnomad_genomes_homalt": 19760,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.249,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000687138.1",
"gene_symbol": "GDF9",
"hgnc_id": 4224,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Thr149Thr"
}
],
"clinvar_disease": "GDF9-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|GDF9-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}