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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: 5-132861671-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132861671&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132861671,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005260.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1283G>C",
"hgvs_p": "p.Ser428Thr",
"transcript": "NM_005260.7",
"protein_id": "NP_005251.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 454,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000687138.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005260.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1283G>C",
"hgvs_p": "p.Ser428Thr",
"transcript": "ENST00000687138.1",
"protein_id": "ENSP00000510441.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 454,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005260.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687138.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1283G>C",
"hgvs_p": "p.Ser428Thr",
"transcript": "ENST00000378673.2",
"protein_id": "ENSP00000367942.2",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 454,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378673.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1283G>C",
"hgvs_p": "p.Ser428Thr",
"transcript": "ENST00000464378.2",
"protein_id": "ENSP00000509893.1",
"transcript_support_level": 2,
"aa_start": 428,
"aa_end": null,
"aa_length": 454,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464378.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "NM_001288824.4",
"protein_id": "NP_001275753.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288824.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "NM_001288825.4",
"protein_id": "NP_001275754.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288825.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "NM_001288826.3",
"protein_id": "NP_001275755.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288826.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "NM_001288827.3",
"protein_id": "NP_001275756.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288827.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "NM_001288828.3",
"protein_id": "NP_001275757.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288828.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "ENST00000296875.4",
"protein_id": "ENSP00000296875.3",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296875.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "ENST00000621295.5",
"protein_id": "ENSP00000484339.1",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621295.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "ENST00000624492.4",
"protein_id": "ENSP00000485037.1",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624492.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "ENST00000624495.4",
"protein_id": "ENSP00000485231.1",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624495.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.998G>C",
"hgvs_p": "p.Ser333Thr",
"transcript": "ENST00000687214.1",
"protein_id": "ENSP00000509237.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 359,
"cds_start": 998,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687214.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1283G>C",
"hgvs_p": "p.Ser428Thr",
"transcript": "XM_011543308.4",
"protein_id": "XP_011541610.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 454,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543308.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1283G>C",
"hgvs_p": "p.Ser428Thr",
"transcript": "XM_047417094.1",
"protein_id": "XP_047273050.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 454,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417094.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "XM_005271957.6",
"protein_id": "XP_005272014.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271957.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "XM_011543309.2",
"protein_id": "XP_011541611.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543309.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1019G>C",
"hgvs_p": "p.Ser340Thr",
"transcript": "XM_011543310.2",
"protein_id": "XP_011541612.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 366,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543310.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.749G>C",
"hgvs_p": "p.Ser250Thr",
"transcript": "XM_011543311.4",
"protein_id": "XP_011541613.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 276,
"cds_start": 749,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543311.4"
}
],
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"dbsnp": "rs118080183",
"frequency_reference_population": 0.000113000526,
"hom_count_reference_population": 0,
"allele_count_reference_population": 182,
"gnomad_exomes_af": 0.000110405,
"gnomad_genomes_af": 0.000137848,
"gnomad_exomes_ac": 161,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07757943868637085,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.651,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5714,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.796,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005260.7",
"gene_symbol": "GDF9",
"hgnc_id": 4224,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1283G>C",
"hgvs_p": "p.Ser428Thr"
}
],
"clinvar_disease": "Genetic non-acquired premature ovarian failure,Premature ovarian failure 14",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Genetic non-acquired premature ovarian failure|Premature ovarian failure 14",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}