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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: 17-75242427-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75242427&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GGA3",
"hgnc_id": 17079,
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_138619.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3169,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8447230458259583,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 723,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 675,
"cds_end": null,
"cds_length": 2172,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_138619.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000537686.6",
"protein_coding": true,
"protein_id": "NP_619525.1",
"strand": false,
"transcript": "NM_138619.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 723,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 675,
"cds_end": null,
"cds_length": 2172,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000537686.6",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138619.4",
"protein_coding": true,
"protein_id": "ENSP00000438085.3",
"strand": false,
"transcript": "ENST00000537686.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 690,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 570,
"cds_end": null,
"cds_length": 2073,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000538886.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446421.2",
"strand": false,
"transcript": "ENST00000538886.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000621870.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.*615A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000479464.1",
"strand": false,
"transcript": "ENST00000621870.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000621870.4",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "n.*615A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000479464.1",
"strand": false,
"transcript": "ENST00000621870.4",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 723,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 675,
"cds_end": null,
"cds_length": 2172,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000924703.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594762.1",
"strand": false,
"transcript": "ENST00000924703.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 721,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 674,
"cds_end": null,
"cds_length": 2166,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000924699.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594758.1",
"strand": false,
"transcript": "ENST00000924699.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 716,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": 664,
"cds_end": null,
"cds_length": 2151,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000924706.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594765.1",
"strand": false,
"transcript": "ENST00000924706.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 703,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 675,
"cds_end": null,
"cds_length": 2112,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000924702.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594761.1",
"strand": false,
"transcript": "ENST00000924702.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 701,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 668,
"cds_end": null,
"cds_length": 2106,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000955609.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625668.1",
"strand": false,
"transcript": "ENST00000955609.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 690,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 576,
"cds_end": null,
"cds_length": 2073,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_014001.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_054720.1",
"strand": false,
"transcript": "NM_014001.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 688,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 569,
"cds_end": null,
"cds_length": 2067,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000924705.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594764.1",
"strand": false,
"transcript": "ENST00000924705.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 668,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 574,
"cds_end": null,
"cds_length": 2007,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000924704.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594763.1",
"strand": false,
"transcript": "ENST00000924704.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 662,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1989,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000924701.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594760.1",
"strand": false,
"transcript": "ENST00000924701.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 651,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1956,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001172703.3",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Glu147Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166174.1",
"strand": false,
"transcript": "NM_001172703.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 651,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1956,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001291641.2",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Glu147Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278570.1",
"strand": false,
"transcript": "NM_001291641.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 651,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1956,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000582717.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Glu147Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462081.1",
"strand": false,
"transcript": "ENST00000582717.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 649,
"aa_ref": "E",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1950,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878323.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548382.1",
"strand": false,
"transcript": "ENST00000878323.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 632,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1899,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000582486.5",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.440A>C",
"hgvs_p": "p.Glu147Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462629.1",
"strand": false,
"transcript": "ENST00000582486.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 629,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1890,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000924707.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594766.1",
"strand": false,
"transcript": "ENST00000924707.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 623,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1872,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000955610.1",
"gene_hgnc_id": 17079,
"gene_symbol": "GGA3",
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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