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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: 17-12992842-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=12992842&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 12992842,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_018127.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2457G>A",
"hgvs_p": "p.Gln819Gln",
"transcript": "NM_018127.7",
"protein_id": "NP_060597.4",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 826,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338034.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018127.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2457G>A",
"hgvs_p": "p.Gln819Gln",
"transcript": "ENST00000338034.9",
"protein_id": "ENSP00000337445.4",
"transcript_support_level": 1,
"aa_start": 819,
"aa_end": null,
"aa_length": 826,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018127.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338034.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2559G>A",
"hgvs_p": "p.Gln853Gln",
"transcript": "ENST00000923774.1",
"protein_id": "ENSP00000593833.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 860,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923774.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2481G>A",
"hgvs_p": "p.Gln827Gln",
"transcript": "ENST00000860253.1",
"protein_id": "ENSP00000530312.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 834,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860253.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2469G>A",
"hgvs_p": "p.Gln823Gln",
"transcript": "ENST00000923773.1",
"protein_id": "ENSP00000593832.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 830,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923773.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2463G>A",
"hgvs_p": "p.Gln821Gln",
"transcript": "ENST00000923771.1",
"protein_id": "ENSP00000593830.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 828,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923771.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2460G>A",
"hgvs_p": "p.Gln820Gln",
"transcript": "ENST00000860251.1",
"protein_id": "ENSP00000530310.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 827,
"cds_start": 2460,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860251.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2457G>A",
"hgvs_p": "p.Gln819Gln",
"transcript": "ENST00000860249.1",
"protein_id": "ENSP00000530308.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 826,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860249.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2454G>A",
"hgvs_p": "p.Gln818Gln",
"transcript": "NM_173717.2",
"protein_id": "NP_776065.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 825,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173717.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2454G>A",
"hgvs_p": "p.Gln818Gln",
"transcript": "ENST00000860246.1",
"protein_id": "ENSP00000530305.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 825,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860246.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2451G>A",
"hgvs_p": "p.Gln817Gln",
"transcript": "ENST00000860247.1",
"protein_id": "ENSP00000530306.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 824,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860247.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2451G>A",
"hgvs_p": "p.Gln817Gln",
"transcript": "ENST00000961321.1",
"protein_id": "ENSP00000631380.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 824,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961321.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2448G>A",
"hgvs_p": "p.Gln816Gln",
"transcript": "ENST00000923772.1",
"protein_id": "ENSP00000593831.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 823,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923772.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2436G>A",
"hgvs_p": "p.Gln812Gln",
"transcript": "ENST00000961322.1",
"protein_id": "ENSP00000631381.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 819,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961322.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2418G>A",
"hgvs_p": "p.Gln806Gln",
"transcript": "ENST00000923775.1",
"protein_id": "ENSP00000593834.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 813,
"cds_start": 2418,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923775.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2415G>A",
"hgvs_p": "p.Gln805Gln",
"transcript": "ENST00000860250.1",
"protein_id": "ENSP00000530309.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 812,
"cds_start": 2415,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860250.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2412G>A",
"hgvs_p": "p.Gln804Gln",
"transcript": "ENST00000860254.1",
"protein_id": "ENSP00000530313.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 811,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860254.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2400G>A",
"hgvs_p": "p.Gln800Gln",
"transcript": "ENST00000395962.6",
"protein_id": "ENSP00000379291.1",
"transcript_support_level": 2,
"aa_start": 800,
"aa_end": null,
"aa_length": 807,
"cds_start": 2400,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395962.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2391G>A",
"hgvs_p": "p.Gln797Gln",
"transcript": "ENST00000860252.1",
"protein_id": "ENSP00000530311.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 804,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860252.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2388G>A",
"hgvs_p": "p.Gln796Gln",
"transcript": "ENST00000961320.1",
"protein_id": "ENSP00000631379.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 803,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961320.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2337G>A",
"hgvs_p": "p.Gln779Gln",
"transcript": "NM_001165962.2",
"protein_id": "NP_001159434.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 786,
"cds_start": 2337,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165962.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2337G>A",
"hgvs_p": "p.Gln779Gln",
"transcript": "ENST00000426905.7",
"protein_id": "ENSP00000405223.3",
"transcript_support_level": 2,
"aa_start": 779,
"aa_end": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Combined oxidative phosphorylation defect type 17|Prostate cancer, hereditary, 2",
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}
],
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}