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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: 17-37089042-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37089042&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 37089042,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_198834.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6924G>A",
"hgvs_p": "p.Ala2308Ala",
"transcript": "NM_198834.3",
"protein_id": "NP_942131.1",
"transcript_support_level": null,
"aa_start": 2308,
"aa_end": null,
"aa_length": 2383,
"cds_start": 6924,
"cds_end": null,
"cds_length": 7152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616317.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198834.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6924G>A",
"hgvs_p": "p.Ala2308Ala",
"transcript": "ENST00000616317.5",
"protein_id": "ENSP00000483300.1",
"transcript_support_level": 1,
"aa_start": 2308,
"aa_end": null,
"aa_length": 2383,
"cds_start": 6924,
"cds_end": null,
"cds_length": 7152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198834.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616317.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "ENST00000614428.4",
"protein_id": "ENSP00000478547.1",
"transcript_support_level": 1,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614428.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.2769G>A",
"hgvs_p": "p.Ala923Ala",
"transcript": "ENST00000619546.4",
"protein_id": "ENSP00000483969.1",
"transcript_support_level": 1,
"aa_start": 923,
"aa_end": null,
"aa_length": 998,
"cds_start": 2769,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619546.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "NM_198836.3",
"protein_id": "NP_942133.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198836.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "NM_198839.3",
"protein_id": "NP_942136.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198839.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6639G>A",
"hgvs_p": "p.Ala2213Ala",
"transcript": "NM_198837.2",
"protein_id": "NP_942134.1",
"transcript_support_level": null,
"aa_start": 2213,
"aa_end": null,
"aa_length": 2288,
"cds_start": 6639,
"cds_end": null,
"cds_length": 6867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198837.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6639G>A",
"hgvs_p": "p.Ala2213Ala",
"transcript": "ENST00000612895.4",
"protein_id": "ENSP00000482269.1",
"transcript_support_level": 5,
"aa_start": 2213,
"aa_end": null,
"aa_length": 2288,
"cds_start": 6639,
"cds_end": null,
"cds_length": 6867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612895.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6579G>A",
"hgvs_p": "p.Ala2193Ala",
"transcript": "NM_198838.2",
"protein_id": "NP_942135.1",
"transcript_support_level": null,
"aa_start": 2193,
"aa_end": null,
"aa_length": 2268,
"cds_start": 6579,
"cds_end": null,
"cds_length": 6807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198838.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6579G>A",
"hgvs_p": "p.Ala2193Ala",
"transcript": "ENST00000617649.4",
"protein_id": "ENSP00000482368.1",
"transcript_support_level": 5,
"aa_start": 2193,
"aa_end": null,
"aa_length": 2268,
"cds_start": 6579,
"cds_end": null,
"cds_length": 6807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617649.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6900G>A",
"hgvs_p": "p.Ala2300Ala",
"transcript": "XM_006721853.2",
"protein_id": "XP_006721916.1",
"transcript_support_level": null,
"aa_start": 2300,
"aa_end": null,
"aa_length": 2375,
"cds_start": 6900,
"cds_end": null,
"cds_length": 7128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721853.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6834G>A",
"hgvs_p": "p.Ala2278Ala",
"transcript": "XM_011524701.2",
"protein_id": "XP_011523003.1",
"transcript_support_level": null,
"aa_start": 2278,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6834,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524701.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "XM_011524703.1",
"protein_id": "XP_011523005.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524703.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "XM_047435878.1",
"protein_id": "XP_047291834.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435878.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "XM_047435879.1",
"protein_id": "XP_047291835.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435879.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "XM_047435880.1",
"protein_id": "XP_047291836.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435880.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "XM_047435881.1",
"protein_id": "XP_047291837.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435881.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "XM_047435882.1",
"protein_id": "XP_047291838.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435882.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6813G>A",
"hgvs_p": "p.Ala2271Ala",
"transcript": "XM_047435883.1",
"protein_id": "XP_047291839.1",
"transcript_support_level": null,
"aa_start": 2271,
"aa_end": null,
"aa_length": 2346,
"cds_start": 6813,
"cds_end": null,
"cds_length": 7041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435883.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6789G>A",
"hgvs_p": "p.Ala2263Ala",
"transcript": "XM_047435884.1",
"protein_id": "XP_047291840.1",
"transcript_support_level": null,
"aa_start": 2263,
"aa_end": null,
"aa_length": 2338,
"cds_start": 6789,
"cds_end": null,
"cds_length": 7017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435884.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6789G>A",
"hgvs_p": "p.Ala2263Ala",
"transcript": "XM_047435885.1",
"protein_id": "XP_047291841.1",
"transcript_support_level": null,
"aa_start": 2263,
"aa_end": null,
"aa_length": 2338,
"cds_start": 6789,
"cds_end": null,
"cds_length": 7017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435885.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACACA",
"gene_hgnc_id": 84,
"hgvs_c": "c.6639G>A",
"hgvs_p": "p.Ala2213Ala",
"transcript": "XM_047435886.1",
"protein_id": "XP_047291842.1",
"transcript_support_level": null,
"aa_start": 2213,
"aa_end": null,
"aa_length": 2288,
"cds_start": 6639,
"cds_end": null,
"cds_length": 6867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"dbsnp": "rs141608509",
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"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.149,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_198834.3",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "ACACA-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|ACACA-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}