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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: 4-153315984-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153315984&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153315984,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001375488.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Ser589Ser",
"transcript": "NM_015271.5",
"protein_id": "NP_056086.2",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 771,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338700.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015271.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Ser589Ser",
"transcript": "ENST00000338700.10",
"protein_id": "ENSP00000339659.5",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 771,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338700.10"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Ser562Ser",
"transcript": "ENST00000675838.1",
"protein_id": "ENSP00000501593.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 898,
"cds_start": 1686,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675838.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Ser562Ser",
"transcript": "ENST00000437508.7",
"protein_id": "ENSP00000415812.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 744,
"cds_start": 1686,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437508.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Ser562Ser",
"transcript": "ENST00000494872.6",
"protein_id": "ENSP00000488229.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 681,
"cds_start": 1686,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494872.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Ser562Ser",
"transcript": "ENST00000675079.1",
"protein_id": "ENSP00000502677.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 902,
"cds_start": 1686,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675079.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1686C>G",
"hgvs_p": "p.Ser562Ser",
"transcript": "ENST00000674967.1",
"protein_id": "ENSP00000501627.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 898,
"cds_start": 1686,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674967.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1860C>G",
"hgvs_p": "p.Ser620Ser",
"transcript": "NM_001375488.1",
"protein_id": "NP_001362417.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 802,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375488.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1857C>G",
"hgvs_p": "p.Ser619Ser",
"transcript": "NM_001375489.1",
"protein_id": "NP_001362418.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 801,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375489.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1833C>G",
"hgvs_p": "p.Ser611Ser",
"transcript": "ENST00000674847.1",
"protein_id": "ENSP00000501983.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 797,
"cds_start": 1833,
"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": "ENST00000674847.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Ser451Ser",
"transcript": "ENST00000675518.1",
"protein_id": "ENSP00000501852.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 787,
"cds_start": 1353,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675518.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Ser589Ser",
"transcript": "NM_001438618.1",
"protein_id": "NP_001425547.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 775,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438618.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Ser593Ser",
"transcript": "ENST00000675063.1",
"protein_id": "ENSP00000501562.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 775,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675063.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Ser593Ser",
"transcript": "ENST00000675673.1",
"protein_id": "ENSP00000502083.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 775,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675673.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1764C>G",
"hgvs_p": "p.Ser588Ser",
"transcript": "NM_001438619.1",
"protein_id": "NP_001425548.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 774,
"cds_start": 1764,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438619.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1764C>G",
"hgvs_p": "p.Ser588Ser",
"transcript": "NM_001438620.1",
"protein_id": "NP_001425549.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 770,
"cds_start": 1764,
"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": "NM_001438620.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Ser585Ser",
"transcript": "ENST00000894199.1",
"protein_id": "ENSP00000564258.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 767,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894199.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1740C>G",
"hgvs_p": "p.Ser580Ser",
"transcript": "NM_001351054.2",
"protein_id": "NP_001337983.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 766,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351054.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1740C>G",
"hgvs_p": "p.Ser580Ser",
"transcript": "ENST00000674935.1",
"protein_id": "ENSP00000501672.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 766,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674935.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1737C>G",
"hgvs_p": "p.Ser579Ser",
"transcript": "NM_001351055.2",
"protein_id": "NP_001337984.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 765,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351055.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1737C>G",
"hgvs_p": "p.Ser579Ser",
"transcript": "ENST00000674726.1",
"protein_id": "ENSP00000502266.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 765,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674726.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.1740C>G",
"hgvs_p": "p.Ser580Ser",
"transcript": "ENST00000675977.1",
"protein_id": "ENSP00000501671.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 762,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.8,
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -5,
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"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000675838.1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2R",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2R",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}