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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: 12-109088332-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109088332&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALKBH2",
"hgnc_id": 32487,
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001205179.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 110,
"alphamissense_prediction": null,
"alphamissense_score": 0.1129,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "12",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01860988140106201,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 157,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": 464,
"cds_end": null,
"cds_length": 474,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000440112.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399820.2",
"strand": false,
"transcript": "ENST00000440112.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145374.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000429722.3",
"protein_coding": true,
"protein_id": "NP_001138846.1",
"strand": false,
"transcript": "NM_001145374.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000429722.3",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145374.2",
"protein_coding": true,
"protein_id": "ENSP00000398181.1",
"strand": false,
"transcript": "ENST00000429722.3",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 887,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000343075.7",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343021.3",
"strand": false,
"transcript": "ENST00000343075.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 157,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": 735,
"cds_end": null,
"cds_length": 474,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001205179.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001192108.1",
"strand": false,
"transcript": "NM_001205179.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 157,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 831,
"cdna_start": 688,
"cds_end": null,
"cds_length": 474,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001205180.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001192109.1",
"strand": false,
"transcript": "NM_001205180.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 157,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 895,
"cdna_start": 751,
"cds_end": null,
"cds_length": 474,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000619381.4",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478765.1",
"strand": false,
"transcript": "ENST00000619381.4",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 157,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 981,
"cdna_start": 838,
"cds_end": null,
"cds_length": 474,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005253836.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253893.1",
"strand": false,
"transcript": "XM_005253836.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 157,
"aa_ref": "T",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 728,
"cdna_start": 585,
"cds_end": null,
"cds_length": 474,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047428309.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284265.1",
"strand": false,
"transcript": "XM_047428309.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 887,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001001655.3",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001655.1",
"strand": false,
"transcript": "NM_001001655.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 927,
"cdna_start": 784,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145375.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138847.1",
"strand": false,
"transcript": "NM_001145375.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": 977,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861370.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531429.1",
"strand": false,
"transcript": "ENST00000861370.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 947,
"cdna_start": 804,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861371.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531430.1",
"strand": false,
"transcript": "ENST00000861371.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1099,
"cdna_start": 956,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861372.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531431.1",
"strand": false,
"transcript": "ENST00000861372.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"cdna_start": 953,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861373.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531432.1",
"strand": false,
"transcript": "ENST00000861373.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": 892,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861374.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531433.1",
"strand": false,
"transcript": "ENST00000861374.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931219.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601278.1",
"strand": false,
"transcript": "ENST00000931219.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 716,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931220.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601279.1",
"strand": false,
"transcript": "ENST00000931220.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 997,
"cdna_start": 854,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931221.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601280.1",
"strand": false,
"transcript": "ENST00000931221.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1052,
"cdna_start": 915,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931222.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601281.1",
"strand": false,
"transcript": "ENST00000931222.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "H",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 902,
"cds_end": null,
"cds_length": 786,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950638.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.660C>T",
"hgvs_p": "p.His220His",
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