← Back to variant description
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: 5-132861635-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132861635&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132861635,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005260.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1319A>G",
"hgvs_p": "p.Tyr440Cys",
"transcript": "NM_005260.7",
"protein_id": "NP_005251.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 454,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": "ENST00000687138.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005260.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1319A>G",
"hgvs_p": "p.Tyr440Cys",
"transcript": "ENST00000687138.1",
"protein_id": "ENSP00000510441.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 454,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": "NM_005260.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687138.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1319A>G",
"hgvs_p": "p.Tyr440Cys",
"transcript": "ENST00000378673.2",
"protein_id": "ENSP00000367942.2",
"transcript_support_level": 5,
"aa_start": 440,
"aa_end": null,
"aa_length": 454,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378673.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1319A>G",
"hgvs_p": "p.Tyr440Cys",
"transcript": "ENST00000464378.2",
"protein_id": "ENSP00000509893.1",
"transcript_support_level": 2,
"aa_start": 440,
"aa_end": null,
"aa_length": 454,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464378.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "NM_001288824.4",
"protein_id": "NP_001275753.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288824.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "NM_001288825.4",
"protein_id": "NP_001275754.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288825.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "NM_001288826.3",
"protein_id": "NP_001275755.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288826.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "NM_001288827.3",
"protein_id": "NP_001275756.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288827.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "NM_001288828.3",
"protein_id": "NP_001275757.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288828.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "ENST00000296875.4",
"protein_id": "ENSP00000296875.3",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296875.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "ENST00000621295.5",
"protein_id": "ENSP00000484339.1",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621295.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "ENST00000624492.4",
"protein_id": "ENSP00000485037.1",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624492.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "ENST00000624495.4",
"protein_id": "ENSP00000485231.1",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624495.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1034A>G",
"hgvs_p": "p.Tyr345Cys",
"transcript": "ENST00000687214.1",
"protein_id": "ENSP00000509237.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 359,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687214.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1319A>G",
"hgvs_p": "p.Tyr440Cys",
"transcript": "XM_011543308.4",
"protein_id": "XP_011541610.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 454,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543308.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1319A>G",
"hgvs_p": "p.Tyr440Cys",
"transcript": "XM_047417094.1",
"protein_id": "XP_047273050.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 454,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417094.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "XM_005271957.6",
"protein_id": "XP_005272014.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271957.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "XM_011543309.2",
"protein_id": "XP_011541611.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543309.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "XM_011543310.2",
"protein_id": "XP_011541612.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 366,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543310.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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.785A>G",
"hgvs_p": "p.Tyr262Cys",
"transcript": "XM_011543311.4",
"protein_id": "XP_011541613.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 276,
"cds_start": 785,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543311.4"
}
],
"gene_symbol": "GDF9",
"gene_hgnc_id": 4224,
"dbsnp": "rs976692105",
"frequency_reference_population": 0.0000055838746,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000479599,
"gnomad_genomes_af": 0.000013138,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9768981337547302,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.906,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.735,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.56,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005260.7",
"gene_symbol": "GDF9",
"hgnc_id": 4224,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1319A>G",
"hgvs_p": "p.Tyr440Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}