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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: 16-11556623-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11556623&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11556623,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000622633.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "NM_001136472.2",
"protein_id": "NP_001129944.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 108,
"cds_end": null,
"cds_length": 486,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": "ENST00000622633.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000622633.5",
"protein_id": "ENSP00000483114.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 108,
"cds_end": null,
"cds_length": 486,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": "NM_001136472.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000339430.9",
"protein_id": "ENSP00000340118.5",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 108,
"cds_end": null,
"cds_length": 486,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000570904.5",
"protein_id": "ENSP00000459138.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 108,
"cds_end": null,
"cds_length": 486,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000571688.6",
"protein_id": "ENSP00000459533.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 108,
"cds_end": null,
"cds_length": 486,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "NM_004862.4",
"protein_id": "NP_004853.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 108,
"cds_end": null,
"cds_length": 486,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000574763.5",
"protein_id": "ENSP00000461813.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 108,
"cds_end": null,
"cds_length": 486,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000576036.5",
"protein_id": "ENSP00000461667.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 161,
"cds_start": 108,
"cds_end": null,
"cds_length": 486,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000571627.5",
"protein_id": "ENSP00000460743.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 152,
"cds_start": 108,
"cds_end": null,
"cds_length": 461,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "NM_001136473.1",
"protein_id": "NP_001129945.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 152,
"cds_start": 108,
"cds_end": null,
"cds_length": 459,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000413364.6",
"protein_id": "ENSP00000397958.2",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 152,
"cds_start": 108,
"cds_end": null,
"cds_length": 459,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000570798.5",
"protein_id": "ENSP00000458871.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 136,
"cds_start": 108,
"cds_end": null,
"cds_length": 412,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000574701.5",
"protein_id": "ENSP00000458981.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 135,
"cds_start": 108,
"cds_end": null,
"cds_length": 409,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000571976.1",
"protein_id": "ENSP00000460133.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 126,
"cds_start": 108,
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"cds_length": 381,
"cdna_start": 169,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000574703.5",
"protein_id": "ENSP00000459913.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 105,
"cds_start": 108,
"cds_end": null,
"cds_length": 318,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.198T>G",
"hgvs_p": "p.Pro66Pro",
"transcript": "ENST00000574848.5",
"protein_id": "ENSP00000459898.1",
"transcript_support_level": 4,
"aa_start": 66,
"aa_end": null,
"aa_length": 87,
"cds_start": 198,
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"cdna_start": 488,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000571459.5",
"protein_id": "ENSP00000459603.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 75,
"cds_start": 108,
"cds_end": null,
"cds_length": 228,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Pro36Pro",
"transcript": "ENST00000571277.1",
"protein_id": "ENSP00000459026.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 38,
"cds_start": 108,
"cds_end": null,
"cds_length": 119,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.198T>G",
"hgvs_p": "p.Pro66Pro",
"transcript": "XM_011522754.4",
"protein_id": "XP_011521056.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
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"cds_start": 198,
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"cdna_start": 655,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.198T>G",
"hgvs_p": "p.Pro66Pro",
"transcript": "XM_047434926.1",
"protein_id": "XP_047290882.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 198,
"cds_end": null,
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"cdna_start": 771,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.198T>G",
"hgvs_p": "p.Pro66Pro",
"transcript": "XM_047434927.1",
"protein_id": "XP_047290883.1",
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"aa_start": 66,
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"cdna_start": 484,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.198T>G",
"hgvs_p": "p.Pro66Pro",
"transcript": "XM_047434928.1",
"protein_id": "XP_047290884.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 198,
"cds_end": null,
"cds_length": 576,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.198T>G",
"hgvs_p": "p.Pro66Pro",
"transcript": "XM_047434929.1",
"protein_id": "XP_047290885.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 191,
"cds_start": 198,
"cds_end": null,
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}
],
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"dbsnp": "rs140990446",
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"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.538,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000622633.5",
"gene_symbol": "LITAF",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.108T>G",
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}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 1C,Inborn genetic diseases,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Charcot-Marie-Tooth disease type 1C|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}