← 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: 14-96486941-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96486941&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 96486941,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152327.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.2018T>C",
"hgvs_p": "p.Leu673Pro",
"transcript": "NM_152327.5",
"protein_id": "NP_689540.2",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 723,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267584.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152327.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.2018T>C",
"hgvs_p": "p.Leu673Pro",
"transcript": "ENST00000267584.9",
"protein_id": "ENSP00000267584.4",
"transcript_support_level": 1,
"aa_start": 673,
"aa_end": null,
"aa_length": 723,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152327.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267584.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.2102T>C",
"hgvs_p": "p.Leu701Pro",
"transcript": "ENST00000856706.1",
"protein_id": "ENSP00000526765.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 751,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856706.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1949T>C",
"hgvs_p": "p.Leu650Pro",
"transcript": "NM_001350888.2",
"protein_id": "NP_001337817.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 707,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350888.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1949T>C",
"hgvs_p": "p.Leu650Pro",
"transcript": "NM_001350890.2",
"protein_id": "NP_001337819.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 700,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350890.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1949T>C",
"hgvs_p": "p.Leu650Pro",
"transcript": "ENST00000856705.1",
"protein_id": "ENSP00000526764.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 700,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856705.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Leu647Pro",
"transcript": "NM_001350891.2",
"protein_id": "NP_001337820.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 697,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350891.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Leu647Pro",
"transcript": "ENST00000856703.1",
"protein_id": "ENSP00000526762.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 697,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856703.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1889T>C",
"hgvs_p": "p.Leu630Pro",
"transcript": "ENST00000856702.1",
"protein_id": "ENSP00000526761.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 680,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856702.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1829T>C",
"hgvs_p": "p.Leu610Pro",
"transcript": "ENST00000856708.1",
"protein_id": "ENSP00000526767.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 660,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856708.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1820T>C",
"hgvs_p": "p.Leu607Pro",
"transcript": "NM_001350892.2",
"protein_id": "NP_001337821.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 657,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350892.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1820T>C",
"hgvs_p": "p.Leu607Pro",
"transcript": "ENST00000856704.1",
"protein_id": "ENSP00000526763.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 657,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856704.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1742T>C",
"hgvs_p": "p.Leu581Pro",
"transcript": "ENST00000856701.1",
"protein_id": "ENSP00000526760.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 631,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856701.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Leu94Pro",
"transcript": "ENST00000554706.1",
"protein_id": "ENSP00000450453.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 151,
"cds_start": 281,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554706.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.2018T>C",
"hgvs_p": "p.Leu673Pro",
"transcript": "XM_006720021.3",
"protein_id": "XP_006720084.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 730,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720021.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Leu647Pro",
"transcript": "XM_006720022.3",
"protein_id": "XP_006720085.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 704,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720022.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1871T>C",
"hgvs_p": "p.Leu624Pro",
"transcript": "XM_047430913.1",
"protein_id": "XP_047286869.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 674,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430913.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1820T>C",
"hgvs_p": "p.Leu607Pro",
"transcript": "XM_017020958.2",
"protein_id": "XP_016876447.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 664,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020958.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1742T>C",
"hgvs_p": "p.Leu581Pro",
"transcript": "XM_017020960.2",
"protein_id": "XP_016876449.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 638,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020960.2"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"hgvs_c": "c.1975-1364T>C",
"hgvs_p": null,
"transcript": "ENST00000856707.1",
"protein_id": "ENSP00000526766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": null,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856707.1"
}
],
"gene_symbol": "AK7",
"gene_hgnc_id": 20091,
"dbsnp": "rs116298211",
"frequency_reference_population": 0.002270691,
"hom_count_reference_population": 7,
"allele_count_reference_population": 3665,
"gnomad_exomes_af": 0.00236088,
"gnomad_genomes_af": 0.00140508,
"gnomad_exomes_ac": 3451,
"gnomad_genomes_ac": 214,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08193272352218628,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.581,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8268,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.015,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_152327.5",
"gene_symbol": "AK7",
"hgnc_id": 20091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2018T>C",
"hgvs_p": "p.Leu673Pro"
}
],
"clinvar_disease": "Spermatogenic failure 27,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 LB:1",
"phenotype_combined": "Spermatogenic failure 27|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}