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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: 2-241750193-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241750193&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241750193,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000321264.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Cys299Tyr",
"transcript": "NM_152783.5",
"protein_id": "NP_689996.4",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 521,
"cds_start": 896,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": "ENST00000321264.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Cys299Tyr",
"transcript": "ENST00000321264.9",
"protein_id": "ENSP00000315351.4",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 521,
"cds_start": 896,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": "NM_152783.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.*1212G>A",
"hgvs_p": null,
"transcript": "ENST00000436747.5",
"protein_id": "ENSP00000400212.1",
"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": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.377G>A",
"hgvs_p": null,
"transcript": "ENST00000470343.5",
"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": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.95G>A",
"hgvs_p": null,
"transcript": "ENST00000473126.1",
"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": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.62G>A",
"hgvs_p": null,
"transcript": "ENST00000486953.5",
"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": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.*1212G>A",
"hgvs_p": null,
"transcript": "ENST00000436747.5",
"protein_id": "ENSP00000400212.1",
"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": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Cys165Tyr",
"transcript": "NM_001287249.2",
"protein_id": "NP_001274178.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 387,
"cds_start": 494,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Cys165Tyr",
"transcript": "ENST00000403782.5",
"protein_id": "ENSP00000384723.1",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 387,
"cds_start": 494,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Cys112Tyr",
"transcript": "NM_001352824.2",
"protein_id": "NP_001339753.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 334,
"cds_start": 335,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "ENST00000432449.1",
"protein_id": "ENSP00000395837.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 187,
"cds_start": 155,
"cds_end": null,
"cds_length": 565,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Cys62Tyr",
"transcript": "ENST00000437164.1",
"protein_id": "ENSP00000412511.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 88,
"cds_start": 185,
"cds_end": null,
"cds_length": 269,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"transcript": "XM_011511743.3",
"protein_id": "XP_011510045.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 438,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"transcript": "XM_017004829.3",
"protein_id": "XP_016860318.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 438,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"transcript": "XM_047445694.1",
"protein_id": "XP_047301650.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 438,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"transcript": "XM_047445696.1",
"protein_id": "XP_047301652.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 438,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"transcript": "XM_047445708.1",
"protein_id": "XP_047301664.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 427,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Cys325Tyr",
"transcript": "XM_017004830.3",
"protein_id": "XP_016860319.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 418,
"cds_start": 974,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Cys325Tyr",
"transcript": "XM_047445710.1",
"protein_id": "XP_047301666.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 416,
"cds_start": 974,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Ala338Thr",
"transcript": "XM_047445712.1",
"protein_id": "XP_047301668.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 416,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Cys325Tyr",
"transcript": "XM_011511750.4",
"protein_id": "XP_011510052.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 414,
"cds_start": 974,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Cys299Tyr",
"transcript": "XM_047445718.1",
"protein_id": "XP_047301674.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 388,
"cds_start": 896,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Cys325Tyr",
"transcript": "XM_011511757.4",
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}