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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: 12-109456223-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109456223&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109456223,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000228495.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Val206Val",
"transcript": "NM_031954.5",
"protein_id": "NP_114160.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 313,
"cds_start": 618,
"cds_end": null,
"cds_length": 942,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": "ENST00000228495.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Val206Val",
"transcript": "ENST00000228495.11",
"protein_id": "ENSP00000228495.6",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 313,
"cds_start": 618,
"cds_end": null,
"cds_length": 942,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": "NM_031954.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Val180Val",
"transcript": "ENST00000540411.5",
"protein_id": "ENSP00000441672.1",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 287,
"cds_start": 540,
"cds_end": null,
"cds_length": 864,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.515T>C",
"hgvs_p": null,
"transcript": "ENST00000538161.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.3407T>C",
"hgvs_p": null,
"transcript": "ENST00000545759.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Val207Val",
"transcript": "NM_001317395.2",
"protein_id": "NP_001304324.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 314,
"cds_start": 621,
"cds_end": null,
"cds_length": 945,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.549T>C",
"hgvs_p": "p.Val183Val",
"transcript": "NM_001317399.2",
"protein_id": "NP_001304328.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 290,
"cds_start": 549,
"cds_end": null,
"cds_length": 873,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.75T>C",
"hgvs_p": "p.Val25Val",
"transcript": "ENST00000540089.5",
"protein_id": "ENSP00000439722.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 132,
"cds_start": 75,
"cds_end": null,
"cds_length": 399,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.75T>C",
"hgvs_p": "p.Val25Val",
"transcript": "ENST00000542954.5",
"protein_id": "ENSP00000439481.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 120,
"cds_start": 75,
"cds_end": null,
"cds_length": 364,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.75T>C",
"hgvs_p": "p.Val25Val",
"transcript": "ENST00000535546.5",
"protein_id": "ENSP00000441586.1",
"transcript_support_level": 4,
"aa_start": 25,
"aa_end": null,
"aa_length": 119,
"cds_start": 75,
"cds_end": null,
"cds_length": 360,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.75T>C",
"hgvs_p": "p.Val25Val",
"transcript": "ENST00000540355.5",
"protein_id": "ENSP00000440008.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 103,
"cds_start": 75,
"cds_end": null,
"cds_length": 312,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Val207Val",
"transcript": "XM_047429637.1",
"protein_id": "XP_047285593.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 297,
"cds_start": 621,
"cds_end": null,
"cds_length": 894,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Val206Val",
"transcript": "XM_047429638.1",
"protein_id": "XP_047285594.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 296,
"cds_start": 618,
"cds_end": null,
"cds_length": 891,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.*214T>C",
"hgvs_p": null,
"transcript": "ENST00000440541.6",
"protein_id": "ENSP00000390321.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.*2075T>C",
"hgvs_p": null,
"transcript": "ENST00000537165.5",
"protein_id": "ENSP00000474497.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.437T>C",
"hgvs_p": null,
"transcript": "ENST00000540402.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.*396T>C",
"hgvs_p": null,
"transcript": "ENST00000541077.1",
"protein_id": "ENSP00000474870.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.486T>C",
"hgvs_p": null,
"transcript": "NR_133897.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.442T>C",
"hgvs_p": null,
"transcript": "NR_133898.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.*214T>C",
"hgvs_p": null,
"transcript": "ENST00000440541.6",
"protein_id": "ENSP00000390321.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.*2075T>C",
"hgvs_p": null,
"transcript": "ENST00000537165.5",
"protein_id": "ENSP00000474497.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "n.*396T>C",
"hgvs_p": null,
"transcript": "ENST00000541077.1",
"protein_id": "ENSP00000474870.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCTD10",
"gene_hgnc_id": 23236,
"hgvs_c": "c.*62T>C",
"hgvs_p": null,
"transcript": "ENST00000542858.1",
"protein_id": "ENSP00000445129.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 526,
"cdna_start": null,
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.046,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000228495.11",
"gene_symbol": "KCTD10",
"hgnc_id": 23236,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.618T>C",
"hgvs_p": "p.Val206Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}