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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: 18-12353090-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12353090&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "AFG3L2",
"hgnc_id": 315,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_006796.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "18",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7300000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 797,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_006796.3",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269143.8",
"protein_coding": true,
"protein_id": "NP_006787.2",
"strand": false,
"transcript": "NM_006796.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 797,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000269143.8",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006796.3",
"protein_coding": true,
"protein_id": "ENSP00000269143.2",
"strand": false,
"transcript": "ENST00000269143.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 866,
"aa_ref": "A",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1440,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889396.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1440G>A",
"hgvs_p": "p.Ala480Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559455.1",
"strand": false,
"transcript": "ENST00000889396.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 845,
"aa_ref": "A",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1440,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964861.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1440G>A",
"hgvs_p": "p.Ala480Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634920.1",
"strand": false,
"transcript": "ENST00000964861.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1362,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889412.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1362G>A",
"hgvs_p": "p.Ala454Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559471.1",
"strand": false,
"transcript": "ENST00000889412.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 829,
"aa_ref": "A",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1440,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964858.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1440G>A",
"hgvs_p": "p.Ala480Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634917.1",
"strand": false,
"transcript": "ENST00000964858.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889406.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1302G>A",
"hgvs_p": "p.Ala434Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559465.1",
"strand": false,
"transcript": "ENST00000889406.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 804,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889408.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559467.1",
"strand": false,
"transcript": "ENST00000889408.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 797,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964852.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634911.1",
"strand": false,
"transcript": "ENST00000964852.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 796,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889395.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559454.1",
"strand": false,
"transcript": "ENST00000889395.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 796,
"aa_ref": "A",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1230,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000918897.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Ala410Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588956.1",
"strand": false,
"transcript": "ENST00000918897.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 795,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889407.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559466.1",
"strand": false,
"transcript": "ENST00000889407.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 794,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 2385,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889398.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559457.1",
"strand": false,
"transcript": "ENST00000889398.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 780,
"aa_ref": "A",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1182,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889400.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1182G>A",
"hgvs_p": "p.Ala394Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559459.1",
"strand": false,
"transcript": "ENST00000889400.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 776,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1170,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000918900.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Ala390Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588959.1",
"strand": false,
"transcript": "ENST00000918900.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 776,
"aa_ref": "A",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1233,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964853.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Ala411Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634912.1",
"strand": false,
"transcript": "ENST00000964853.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 772,
"aa_ref": "A",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000691179.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1158G>A",
"hgvs_p": "p.Ala386Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509010.1",
"strand": false,
"transcript": "ENST00000691179.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 771,
"aa_ref": "A",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 2316,
"cds_start": 1155,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889392.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Ala385Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559451.1",
"strand": false,
"transcript": "ENST00000889392.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1155,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889409.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Ala385Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559468.1",
"strand": false,
"transcript": "ENST00000889409.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1152,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964860.1",
"gene_hgnc_id": 315,
"gene_symbol": "AFG3L2",
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Ala384Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634919.1",
"strand": false,
"transcript": "ENST00000964860.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 769,
"aa_ref": "A",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1149,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
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}