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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: 11-43854791-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=43854791&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 43854791,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016142.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Thr254Lys",
"transcript": "NM_016142.3",
"protein_id": "NP_057226.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 312,
"cds_start": 761,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278353.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016142.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Thr254Lys",
"transcript": "ENST00000278353.10",
"protein_id": "ENSP00000278353.4",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 312,
"cds_start": 761,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016142.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278353.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.2745C>A",
"hgvs_p": null,
"transcript": "ENST00000525736.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525736.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Thr254Lys",
"transcript": "ENST00000865203.1",
"protein_id": "ENSP00000535262.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 312,
"cds_start": 761,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865203.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Thr253Lys",
"transcript": "ENST00000865204.1",
"protein_id": "ENSP00000535263.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 311,
"cds_start": 758,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865204.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Thr251Lys",
"transcript": "ENST00000925444.1",
"protein_id": "ENSP00000595503.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 309,
"cds_start": 752,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925444.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.716C>A",
"hgvs_p": "p.Thr239Lys",
"transcript": "ENST00000966177.1",
"protein_id": "ENSP00000636236.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 297,
"cds_start": 716,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966177.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Thr238Lys",
"transcript": "ENST00000925445.1",
"protein_id": "ENSP00000595504.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 296,
"cds_start": 713,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925445.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.695C>A",
"hgvs_p": "p.Thr232Lys",
"transcript": "ENST00000925446.1",
"protein_id": "ENSP00000595505.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 290,
"cds_start": 695,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925446.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.653C>A",
"hgvs_p": "p.Thr218Lys",
"transcript": "ENST00000637401.1",
"protein_id": "ENSP00000490421.1",
"transcript_support_level": 4,
"aa_start": 218,
"aa_end": null,
"aa_length": 276,
"cds_start": 653,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637401.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.635C>A",
"hgvs_p": "p.Thr212Lys",
"transcript": "ENST00000925447.1",
"protein_id": "ENSP00000595506.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 270,
"cds_start": 635,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925447.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Thr193Lys",
"transcript": "ENST00000865207.1",
"protein_id": "ENSP00000535266.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 251,
"cds_start": 578,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865207.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.575C>A",
"hgvs_p": "p.Thr192Lys",
"transcript": "ENST00000865208.1",
"protein_id": "ENSP00000535267.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 250,
"cds_start": 575,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865208.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.530C>A",
"hgvs_p": "p.Thr177Lys",
"transcript": "ENST00000865206.1",
"protein_id": "ENSP00000535265.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 235,
"cds_start": 530,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865206.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.665C>A",
"hgvs_p": "p.Thr222Lys",
"transcript": "XM_017017881.2",
"protein_id": "XP_016873370.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 280,
"cds_start": 665,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017881.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.539C>A",
"hgvs_p": "p.Thr180Lys",
"transcript": "XM_011520156.2",
"protein_id": "XP_011518458.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 238,
"cds_start": 539,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520156.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.539C>A",
"hgvs_p": "p.Thr180Lys",
"transcript": "XM_024448571.2",
"protein_id": "XP_024304339.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 238,
"cds_start": 539,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448571.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.539C>A",
"hgvs_p": "p.Thr180Lys",
"transcript": "XM_024448572.2",
"protein_id": "XP_024304340.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 238,
"cds_start": 539,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448572.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.539C>A",
"hgvs_p": "p.Thr180Lys",
"transcript": "XM_024448573.2",
"protein_id": "XP_024304341.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 238,
"cds_start": 539,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448573.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.539C>A",
"hgvs_p": "p.Thr180Lys",
"transcript": "XM_047427074.1",
"protein_id": "XP_047283030.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 238,
"cds_start": 539,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.362-27C>A",
"hgvs_p": null,
"transcript": "ENST00000865205.1",
"protein_id": "ENSP00000535264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.1173C>A",
"hgvs_p": null,
"transcript": "ENST00000533090.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.5,
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}