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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-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12353090&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12353090,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006796.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "NM_006796.3",
"protein_id": "NP_006787.2",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 797,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269143.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006796.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "ENST00000269143.8",
"protein_id": "ENSP00000269143.2",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 797,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006796.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269143.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1440G>T",
"hgvs_p": "p.Ala480Ala",
"transcript": "ENST00000889396.1",
"protein_id": "ENSP00000559455.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 866,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889396.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1440G>T",
"hgvs_p": "p.Ala480Ala",
"transcript": "ENST00000964861.1",
"protein_id": "ENSP00000634920.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 845,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964861.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1362G>T",
"hgvs_p": "p.Ala454Ala",
"transcript": "ENST00000889412.1",
"protein_id": "ENSP00000559471.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 840,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889412.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1440G>T",
"hgvs_p": "p.Ala480Ala",
"transcript": "ENST00000964858.1",
"protein_id": "ENSP00000634917.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 829,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964858.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Ala434Ala",
"transcript": "ENST00000889406.1",
"protein_id": "ENSP00000559465.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 820,
"cds_start": 1302,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889406.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "ENST00000889408.1",
"protein_id": "ENSP00000559467.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 804,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889408.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "ENST00000964852.1",
"protein_id": "ENSP00000634911.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 797,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964852.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "ENST00000889395.1",
"protein_id": "ENSP00000559454.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 796,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889395.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1230G>T",
"hgvs_p": "p.Ala410Ala",
"transcript": "ENST00000918897.1",
"protein_id": "ENSP00000588956.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 796,
"cds_start": 1230,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918897.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "ENST00000889407.1",
"protein_id": "ENSP00000559466.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 795,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889407.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "ENST00000889398.1",
"protein_id": "ENSP00000559457.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 794,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889398.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1182G>T",
"hgvs_p": "p.Ala394Ala",
"transcript": "ENST00000889400.1",
"protein_id": "ENSP00000559459.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 780,
"cds_start": 1182,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889400.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1170G>T",
"hgvs_p": "p.Ala390Ala",
"transcript": "ENST00000918900.1",
"protein_id": "ENSP00000588959.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 776,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918900.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "ENST00000964853.1",
"protein_id": "ENSP00000634912.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 776,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964853.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1158G>T",
"hgvs_p": "p.Ala386Ala",
"transcript": "ENST00000691179.1",
"protein_id": "ENSP00000509010.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 772,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691179.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1155G>T",
"hgvs_p": "p.Ala385Ala",
"transcript": "ENST00000889392.1",
"protein_id": "ENSP00000559451.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 771,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889392.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1155G>T",
"hgvs_p": "p.Ala385Ala",
"transcript": "ENST00000889409.1",
"protein_id": "ENSP00000559468.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 770,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889409.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1152G>T",
"hgvs_p": "p.Ala384Ala",
"transcript": "ENST00000964860.1",
"protein_id": "ENSP00000634919.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 770,
"cds_start": 1152,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964860.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1149G>T",
"hgvs_p": "p.Ala383Ala",
"transcript": "ENST00000918901.1",
"protein_id": "ENSP00000588960.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 769,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918901.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala",
"transcript": "ENST00000889393.1",
"protein_id": "ENSP00000559452.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 760,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
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{
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{
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{
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],
"gene_symbol": "AFG3L2",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.304,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006796.3",
"gene_symbol": "AFG3L2",
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"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Ala411Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}