← 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: 9-101427533-AG-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=101427533&ref=AG&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALDOB",
"hgnc_id": 417,
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_000035.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000035.4",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647789.2",
"protein_coding": true,
"protein_id": "NP_000026.2",
"strand": false,
"transcript": "NM_000035.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647789.2",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000035.4",
"protein_coding": true,
"protein_id": "ENSP00000497767.1",
"strand": false,
"transcript": "ENST00000647789.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648064.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497990.1",
"strand": false,
"transcript": "ENST00000648064.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648758.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497731.1",
"strand": false,
"transcript": "ENST00000648758.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903775.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573834.1",
"strand": false,
"transcript": "ENST00000903775.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903776.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573835.1",
"strand": false,
"transcript": "ENST00000903776.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903777.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573836.1",
"strand": false,
"transcript": "ENST00000903777.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903778.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573837.1",
"strand": false,
"transcript": "ENST00000903778.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903779.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573838.1",
"strand": false,
"transcript": "ENST00000903779.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903780.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573839.1",
"strand": false,
"transcript": "ENST00000903780.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903782.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573841.1",
"strand": false,
"transcript": "ENST00000903782.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903785.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573844.1",
"strand": false,
"transcript": "ENST00000903785.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903787.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573846.1",
"strand": false,
"transcript": "ENST00000903787.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5995,
"cdna_start": 4957,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903788.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573847.1",
"strand": false,
"transcript": "ENST00000903788.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903789.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573848.1",
"strand": false,
"transcript": "ENST00000903789.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903790.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573849.1",
"strand": false,
"transcript": "ENST00000903790.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1095,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903791.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573850.1",
"strand": false,
"transcript": "ENST00000903791.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 360,
"aa_ref": "A",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1083,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903783.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.476_477delCTinsTA",
"hgvs_p": "p.Ala159Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573842.1",
"strand": false,
"transcript": "ENST00000903783.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": 550,
"cds_end": null,
"cds_length": 1080,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903786.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.473_474delCTinsTA",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573845.1",
"strand": false,
"transcript": "ENST00000903786.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 358,
"aa_ref": "A",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1077,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903784.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.470_471delCTinsTA",
"hgvs_p": "p.Ala157Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573843.1",
"strand": false,
"transcript": "ENST00000903784.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 342,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1029,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649902.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497216.1",
"strand": false,
"transcript": "ENST00000649902.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 336,
"aa_ref": "A",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1011,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903781.1",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "c.488_489delCTinsTA",
"hgvs_p": "p.Ala163Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573840.1",
"strand": false,
"transcript": "ENST00000903781.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 218,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000468981.3",
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"hgvs_c": "n.68-896_68-895delCTinsTA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468981.3",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 417,
"gene_symbol": "ALDOB",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.011,
"pos": 101427533,
"ref": "AG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_000035.4"
}
]
}