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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: 4-113369733-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113369733&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113369733,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000357077.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11538C>G",
"hgvs_p": "p.Leu3846Leu",
"transcript": "NM_001148.6",
"protein_id": "NP_001139.3",
"transcript_support_level": null,
"aa_start": 3846,
"aa_end": null,
"aa_length": 3957,
"cds_start": 11538,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 11614,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "ENST00000357077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11538C>G",
"hgvs_p": "p.Leu3846Leu",
"transcript": "ENST00000357077.9",
"protein_id": "ENSP00000349588.4",
"transcript_support_level": 1,
"aa_start": 3846,
"aa_end": null,
"aa_length": 3957,
"cds_start": 11538,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 11614,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "NM_001148.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11679C>G",
"hgvs_p": "p.Leu3893Leu",
"transcript": "ENST00000506344.6",
"protein_id": "ENSP00000422888.2",
"transcript_support_level": 1,
"aa_start": 3893,
"aa_end": null,
"aa_length": 4183,
"cds_start": 11679,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 11929,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5283C>G",
"hgvs_p": "p.Leu1761Leu",
"transcript": "ENST00000394537.7",
"protein_id": "ENSP00000378044.3",
"transcript_support_level": 1,
"aa_start": 1761,
"aa_end": null,
"aa_length": 1872,
"cds_start": 5283,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 5336,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.5256C>G",
"hgvs_p": "p.Leu1752Leu",
"transcript": "ENST00000506722.5",
"protein_id": "ENSP00000421067.1",
"transcript_support_level": 1,
"aa_start": 1752,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5256,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5451,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.2286C>G",
"hgvs_p": "p.Leu762Leu",
"transcript": "ENST00000514960.5",
"protein_id": "ENSP00000422853.1",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 965,
"cds_start": 2286,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1965C>G",
"hgvs_p": "p.Leu655Leu",
"transcript": "ENST00000510275.8",
"protein_id": "ENSP00000421023.4",
"transcript_support_level": 1,
"aa_start": 655,
"aa_end": null,
"aa_length": 683,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11679C>G",
"hgvs_p": "p.Leu3893Leu",
"transcript": "NM_001386174.1",
"protein_id": "NP_001373103.1",
"transcript_support_level": null,
"aa_start": 3893,
"aa_end": null,
"aa_length": 4183,
"cds_start": 11679,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 11929,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11655C>G",
"hgvs_p": "p.Leu3885Leu",
"transcript": "NM_001386175.1",
"protein_id": "NP_001373104.1",
"transcript_support_level": null,
"aa_start": 3885,
"aa_end": null,
"aa_length": 4175,
"cds_start": 11655,
"cds_end": null,
"cds_length": 12528,
"cdna_start": 11905,
"cdna_end": null,
"cdna_length": 14874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11376C>G",
"hgvs_p": "p.Leu3792Leu",
"transcript": "ENST00000672209.1",
"protein_id": "ENSP00000499982.1",
"transcript_support_level": null,
"aa_start": 3792,
"aa_end": null,
"aa_length": 3995,
"cds_start": 11376,
"cds_end": null,
"cds_length": 11988,
"cdna_start": 11575,
"cdna_end": null,
"cdna_length": 14932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11619C>G",
"hgvs_p": "p.Leu3873Leu",
"transcript": "ENST00000672240.1",
"protein_id": "ENSP00000500548.1",
"transcript_support_level": null,
"aa_start": 3873,
"aa_end": null,
"aa_length": 3984,
"cds_start": 11619,
"cds_end": null,
"cds_length": 11955,
"cdna_start": 12212,
"cdna_end": null,
"cdna_length": 15298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11583C>G",
"hgvs_p": "p.Leu3861Leu",
"transcript": "ENST00000671971.1",
"protein_id": "ENSP00000499832.1",
"transcript_support_level": null,
"aa_start": 3861,
"aa_end": null,
"aa_length": 3972,
"cds_start": 11583,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 12176,
"cdna_end": null,
"cdna_length": 15262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11376C>G",
"hgvs_p": "p.Leu3792Leu",
"transcript": "ENST00000673298.1",
"protein_id": "ENSP00000500245.1",
"transcript_support_level": null,
"aa_start": 3792,
"aa_end": null,
"aa_length": 3964,
"cds_start": 11376,
"cds_end": null,
"cds_length": 11895,
"cdna_start": 11575,
"cdna_end": null,
"cdna_length": 14363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11376C>G",
"hgvs_p": "p.Leu3792Leu",
"transcript": "ENST00000503423.6",
"protein_id": "ENSP00000421011.2",
"transcript_support_level": 5,
"aa_start": 3792,
"aa_end": null,
"aa_length": 3961,
"cds_start": 11376,
"cds_end": null,
"cds_length": 11886,
"cdna_start": 11575,
"cdna_end": null,
"cdna_length": 12641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11304C>G",
"hgvs_p": "p.Leu3768Leu",
"transcript": "NM_001386142.1",
"protein_id": "NP_001373071.1",
"transcript_support_level": null,
"aa_start": 3768,
"aa_end": null,
"aa_length": 3940,
"cds_start": 11304,
"cds_end": null,
"cds_length": 11823,
"cdna_start": 11503,
"cdna_end": null,
"cdna_length": 14287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11484C>G",
"hgvs_p": "p.Leu3828Leu",
"transcript": "ENST00000673363.1",
"protein_id": "ENSP00000500539.1",
"transcript_support_level": null,
"aa_start": 3828,
"aa_end": null,
"aa_length": 3939,
"cds_start": 11484,
"cds_end": null,
"cds_length": 11820,
"cdna_start": 12077,
"cdna_end": null,
"cdna_length": 15163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11475C>G",
"hgvs_p": "p.Leu3825Leu",
"transcript": "ENST00000672830.1",
"protein_id": "ENSP00000500222.1",
"transcript_support_level": null,
"aa_start": 3825,
"aa_end": null,
"aa_length": 3936,
"cds_start": 11475,
"cds_end": null,
"cds_length": 11811,
"cdna_start": 11685,
"cdna_end": null,
"cdna_length": 14771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11376C>G",
"hgvs_p": "p.Leu3792Leu",
"transcript": "ENST00000672068.1",
"protein_id": "ENSP00000499902.1",
"transcript_support_level": null,
"aa_start": 3792,
"aa_end": null,
"aa_length": 3934,
"cds_start": 11376,
"cds_end": null,
"cds_length": 11805,
"cdna_start": 11575,
"cdna_end": null,
"cdna_length": 14485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11439C>G",
"hgvs_p": "p.Leu3813Leu",
"transcript": "ENST00000264366.10",
"protein_id": "ENSP00000264366.6",
"transcript_support_level": 5,
"aa_start": 3813,
"aa_end": null,
"aa_length": 3924,
"cds_start": 11439,
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"cds_length": 11775,
"cdna_start": 11439,
"cdna_end": null,
"cdna_length": 11775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11439C>G",
"hgvs_p": "p.Leu3813Leu",
"transcript": "ENST00000672502.1",
"protein_id": "ENSP00000499870.1",
"transcript_support_level": null,
"aa_start": 3813,
"aa_end": null,
"aa_length": 3924,
"cds_start": 11439,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 11646,
"cdna_end": null,
"cdna_length": 14732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11412C>G",
"hgvs_p": "p.Leu3804Leu",
"transcript": "ENST00000671809.1",
"protein_id": "ENSP00000500872.1",
"transcript_support_level": null,
"aa_start": 3804,
"aa_end": null,
"aa_length": 3915,
"cds_start": 11412,
"cds_end": null,
"cds_length": 11748,
"cdna_start": 11611,
"cdna_end": null,
"cdna_length": 14697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11376C>G",
"hgvs_p": "p.Leu3792Leu",
"transcript": "ENST00000672090.1",
"protein_id": "ENSP00000500540.1",
"transcript_support_level": null,
"aa_start": 3792,
"aa_end": null,
"aa_length": 3903,
"cds_start": 11376,
"cds_end": null,
"cds_length": 11712,
"cdna_start": 11575,
"cdna_end": null,
"cdna_length": 14661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
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{
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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": -0.73,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000357077.9",
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"effects": [
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"inheritance_mode": "AD,Unknown",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}