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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: 16-11556680-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11556680&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11556680,
"ref": "T",
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "NM_001136472.2",
"protein_id": "NP_001129944.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 161,
"cds_start": 51,
"cds_end": null,
"cds_length": 486,
"cdna_start": 90,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000622633.5",
"protein_id": "ENSP00000483114.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 161,
"cds_start": 51,
"cds_end": null,
"cds_length": 486,
"cdna_start": 90,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000339430.9",
"protein_id": "ENSP00000340118.5",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 161,
"cds_start": 51,
"cds_end": null,
"cds_length": 486,
"cdna_start": 284,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000570904.5",
"protein_id": "ENSP00000459138.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 161,
"cds_start": 51,
"cds_end": null,
"cds_length": 486,
"cdna_start": 153,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000571688.6",
"protein_id": "ENSP00000459533.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 161,
"cds_start": 51,
"cds_end": null,
"cds_length": 486,
"cdna_start": 282,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "NM_004862.4",
"protein_id": "NP_004853.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 161,
"cds_start": 51,
"cds_end": null,
"cds_length": 486,
"cdna_start": 122,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000574763.5",
"protein_id": "ENSP00000461813.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 161,
"cds_start": 51,
"cds_end": null,
"cds_length": 486,
"cdna_start": 271,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000576036.5",
"protein_id": "ENSP00000461667.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 161,
"cds_start": 51,
"cds_end": null,
"cds_length": 486,
"cdna_start": 144,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000571627.5",
"protein_id": "ENSP00000460743.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 152,
"cds_start": 51,
"cds_end": null,
"cds_length": 461,
"cdna_start": 169,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "NM_001136473.1",
"protein_id": "NP_001129945.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 152,
"cds_start": 51,
"cds_end": null,
"cds_length": 459,
"cdna_start": 121,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000413364.6",
"protein_id": "ENSP00000397958.2",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 152,
"cds_start": 51,
"cds_end": null,
"cds_length": 459,
"cdna_start": 121,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000570798.5",
"protein_id": "ENSP00000458871.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 136,
"cds_start": 51,
"cds_end": null,
"cds_length": 412,
"cdna_start": 232,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000574701.5",
"protein_id": "ENSP00000458981.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 135,
"cds_start": 51,
"cds_end": null,
"cds_length": 409,
"cdna_start": 195,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000571976.1",
"protein_id": "ENSP00000460133.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 126,
"cds_start": 51,
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"cdna_start": 112,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000574703.5",
"protein_id": "ENSP00000459913.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 105,
"cds_start": 51,
"cds_end": null,
"cds_length": 318,
"cdna_start": 90,
"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.141A>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000574848.5",
"protein_id": "ENSP00000459898.1",
"transcript_support_level": 4,
"aa_start": 47,
"aa_end": null,
"aa_length": 87,
"cds_start": 141,
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"cdna_start": 431,
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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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000571459.5",
"protein_id": "ENSP00000459603.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 75,
"cds_start": 51,
"cds_end": null,
"cds_length": 228,
"cdna_start": 74,
"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.51A>G",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000571277.1",
"protein_id": "ENSP00000459026.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 38,
"cds_start": 51,
"cds_end": null,
"cds_length": 119,
"cdna_start": 519,
"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.141A>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "XM_011522754.4",
"protein_id": "XP_011521056.1",
"transcript_support_level": null,
"aa_start": 47,
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"cds_start": 141,
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"cdna_start": 598,
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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.141A>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "XM_047434926.1",
"protein_id": "XP_047290882.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 191,
"cds_start": 141,
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"cdna_start": 714,
"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.141A>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "XM_047434927.1",
"protein_id": "XP_047290883.1",
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"cdna_start": 427,
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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.141A>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "XM_047434928.1",
"protein_id": "XP_047290884.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 191,
"cds_start": 141,
"cds_end": null,
"cds_length": 576,
"cdna_start": 511,
"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.141A>G",
"hgvs_p": "p.Pro47Pro",
"transcript": "XM_047434929.1",
"protein_id": "XP_047290885.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 191,
"cds_start": 141,
"cds_end": null,
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],
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{
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"BP7",
"BS2"
],
"verdict": "Benign",
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],
"clinvar_disease": "Charcot-Marie-Tooth disease type 1C,Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Charcot-Marie-Tooth disease type 1C|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}