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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: 12-49652204-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49652204&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 49652204,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001367835.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1332T>C",
"hgvs_p": "p.Tyr444Tyr",
"transcript": "NM_175736.5",
"protein_id": "NP_783863.4",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1332,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335154.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175736.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1332T>C",
"hgvs_p": "p.Tyr444Tyr",
"transcript": "ENST00000335154.10",
"protein_id": "ENSP00000335655.5",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1332,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175736.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335154.10"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1392T>C",
"hgvs_p": "p.Tyr464Tyr",
"transcript": "ENST00000865009.1",
"protein_id": "ENSP00000535068.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1392,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865009.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1332T>C",
"hgvs_p": "p.Tyr444Tyr",
"transcript": "NM_001367835.1",
"protein_id": "NP_001354764.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1028,
"cds_start": 1332,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367835.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1332T>C",
"hgvs_p": "p.Tyr444Tyr",
"transcript": "ENST00000550488.5",
"protein_id": "ENSP00000447479.1",
"transcript_support_level": 5,
"aa_start": 444,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1332,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550488.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1329T>C",
"hgvs_p": "p.Tyr443Tyr",
"transcript": "ENST00000966893.1",
"protein_id": "ENSP00000636952.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1026,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966893.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1179T>C",
"hgvs_p": "p.Tyr393Tyr",
"transcript": "NM_198900.3",
"protein_id": "NP_944489.2",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 976,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198900.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1179T>C",
"hgvs_p": "p.Tyr393Tyr",
"transcript": "ENST00000352151.9",
"protein_id": "ENSP00000344311.5",
"transcript_support_level": 2,
"aa_start": 393,
"aa_end": null,
"aa_length": 976,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352151.9"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1176T>C",
"hgvs_p": "p.Tyr392Tyr",
"transcript": "ENST00000865008.1",
"protein_id": "ENSP00000535067.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 975,
"cds_start": 1176,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865008.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1179T>C",
"hgvs_p": "p.Tyr393Tyr",
"transcript": "ENST00000966892.1",
"protein_id": "ENSP00000636951.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 959,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966892.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Tyr463Tyr",
"transcript": "XM_011538968.3",
"protein_id": "XP_011537270.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1389,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538968.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1386T>C",
"hgvs_p": "p.Tyr462Tyr",
"transcript": "XM_011538970.3",
"protein_id": "XP_011537272.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 1046,
"cds_start": 1386,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538970.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1329T>C",
"hgvs_p": "p.Tyr443Tyr",
"transcript": "XM_047429859.1",
"protein_id": "XP_047285815.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1329,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429859.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1257T>C",
"hgvs_p": "p.Tyr419Tyr",
"transcript": "XM_011538974.3",
"protein_id": "XP_011537276.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1003,
"cds_start": 1257,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538974.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1248T>C",
"hgvs_p": "p.Tyr416Tyr",
"transcript": "XM_011538971.3",
"protein_id": "XP_011537273.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1248,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538971.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1236T>C",
"hgvs_p": "p.Tyr412Tyr",
"transcript": "XM_011538972.3",
"protein_id": "XP_011537274.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 996,
"cds_start": 1236,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538972.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1233T>C",
"hgvs_p": "p.Tyr411Tyr",
"transcript": "XM_047429860.1",
"protein_id": "XP_047285816.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 995,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429860.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1200T>C",
"hgvs_p": "p.Tyr400Tyr",
"transcript": "XM_047429861.1",
"protein_id": "XP_047285817.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 984,
"cds_start": 1200,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429861.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1200T>C",
"hgvs_p": "p.Tyr400Tyr",
"transcript": "XM_047429862.1",
"protein_id": "XP_047285818.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 984,
"cds_start": 1200,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429862.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1179T>C",
"hgvs_p": "p.Tyr393Tyr",
"transcript": "XM_047429863.1",
"protein_id": "XP_047285819.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 977,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429863.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1176T>C",
"hgvs_p": "p.Tyr392Tyr",
"transcript": "XM_047429864.1",
"protein_id": "XP_047285820.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 976,
"cds_start": 1176,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429864.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMNL3",
"gene_hgnc_id": 23698,
"hgvs_c": "c.1023T>C",
"hgvs_p": "p.Tyr341Tyr",
"transcript": "XM_011538973.3",
"protein_id": "XP_011537275.2",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 925,
"cds_start": 1023,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
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{
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.632,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001367835.1",
"gene_symbol": "FMNL3",
"hgnc_id": 23698,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1332T>C",
"hgvs_p": "p.Tyr444Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}