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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: 10-101037108-A-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101037108&ref=A&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "SFXN3",
"hgnc_id": 16087,
"hgvs_c": "c.652dupG",
"hgvs_p": "p.Ala218fs",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001388027.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"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": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_030971.6",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393459.6",
"protein_coding": true,
"protein_id": "NP_112233.3",
"strand": true,
"transcript": "NM_030971.6",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000393459.6",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030971.6",
"protein_coding": true,
"protein_id": "ENSP00000377103.1",
"strand": true,
"transcript": "ENST00000393459.6",
"transcript_support_level": 5
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3322,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 990,
"cds_start": 653,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001388027.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.652dupG",
"hgvs_p": "p.Ala218fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374956.1",
"strand": true,
"transcript": "NM_001388027.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 329,
"aa_ref": "A",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 990,
"cds_start": 653,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001388028.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.652dupG",
"hgvs_p": "p.Ala218fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374957.1",
"strand": true,
"transcript": "NM_001388028.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 325,
"aa_ref": "A",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 978,
"cds_start": 641,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001388029.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.640dupG",
"hgvs_p": "p.Ala214fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374958.1",
"strand": true,
"transcript": "NM_001388029.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 325,
"aa_ref": "A",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 978,
"cds_start": 641,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001388030.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.640dupG",
"hgvs_p": "p.Ala214fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374959.1",
"strand": true,
"transcript": "NM_001388030.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 325,
"aa_ref": "A",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 978,
"cds_start": 641,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001388031.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.640dupG",
"hgvs_p": "p.Ala214fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374960.1",
"strand": true,
"transcript": "NM_001388031.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 325,
"aa_ref": "A",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1224,
"cdna_start": 716,
"cds_end": null,
"cds_length": 978,
"cds_start": 641,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698791.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.640dupG",
"hgvs_p": "p.Ala214fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513933.1",
"strand": true,
"transcript": "ENST00000698791.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896239.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566298.1",
"strand": true,
"transcript": "ENST00000896239.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 915,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896240.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566299.1",
"strand": true,
"transcript": "ENST00000896240.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896241.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566300.1",
"strand": true,
"transcript": "ENST00000896241.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 875,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896242.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566301.1",
"strand": true,
"transcript": "ENST00000896242.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896243.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566302.1",
"strand": true,
"transcript": "ENST00000896243.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 677,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000954852.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624911.1",
"strand": true,
"transcript": "ENST00000954852.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 963,
"cds_end": null,
"cds_length": 966,
"cds_start": 629,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000954853.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.628dupG",
"hgvs_p": "p.Ala210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624912.1",
"strand": true,
"transcript": "ENST00000954853.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 312,
"aa_ref": "A",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 939,
"cds_start": 602,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000954850.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.601dupG",
"hgvs_p": "p.Ala201fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624909.1",
"strand": true,
"transcript": "ENST00000954850.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 927,
"cds_start": 590,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001388032.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.589dupG",
"hgvs_p": "p.Ala197fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374961.1",
"strand": true,
"transcript": "NM_001388032.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 304,
"aa_ref": "A",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 625,
"cds_end": null,
"cds_length": 915,
"cds_start": 578,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896244.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.577dupG",
"hgvs_p": "p.Ala193fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566303.1",
"strand": true,
"transcript": "ENST00000896244.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 288,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 602,
"cds_end": null,
"cds_length": 867,
"cds_start": 530,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698792.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.529dupG",
"hgvs_p": "p.Ala177fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513934.1",
"strand": true,
"transcript": "ENST00000698792.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 288,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 609,
"cds_end": null,
"cds_length": 867,
"cds_start": 530,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954854.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.529dupG",
"hgvs_p": "p.Ala177fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624913.1",
"strand": true,
"transcript": "ENST00000954854.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 285,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 982,
"cds_end": null,
"cds_length": 858,
"cds_start": 521,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001388033.1",
"gene_hgnc_id": 16087,
"gene_symbol": "SFXN3",
"hgvs_c": "c.520dupG",
"hgvs_p": "p.Ala174fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374962.1",
"strand": true,
"transcript": "NM_001388033.1",
"transcript_support_level": null
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