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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: 11-72843181-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72843181&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72843181,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014824.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Val559Ile",
"transcript": "NM_014824.3",
"protein_id": "NP_055639.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 740,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409418.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014824.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Val559Ile",
"transcript": "ENST00000409418.9",
"protein_id": "ENSP00000386722.4",
"transcript_support_level": 2,
"aa_start": 559,
"aa_end": null,
"aa_length": 740,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014824.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409418.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "ENST00000311172.11",
"protein_id": "ENSP00000308978.7",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 684,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311172.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "ENST00000409853.5",
"protein_id": "ENSP00000386314.1",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 515,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409853.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.*586C>T",
"hgvs_p": null,
"transcript": "ENST00000534905.5",
"protein_id": "ENSP00000441189.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534905.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Val583Ile",
"transcript": "ENST00000409314.5",
"protein_id": "ENSP00000386987.1",
"transcript_support_level": 5,
"aa_start": 583,
"aa_end": null,
"aa_length": 764,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409314.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1735G>A",
"hgvs_p": "p.Val579Ile",
"transcript": "ENST00000891583.1",
"protein_id": "ENSP00000561642.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 760,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891583.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1720G>A",
"hgvs_p": "p.Val574Ile",
"transcript": "ENST00000891582.1",
"protein_id": "ENSP00000561641.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 755,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891582.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Val559Ile",
"transcript": "ENST00000891581.1",
"protein_id": "ENSP00000561640.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 748,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891581.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Val557Ile",
"transcript": "ENST00000891572.1",
"protein_id": "ENSP00000561631.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 738,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891572.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Val527Ile",
"transcript": "ENST00000891579.1",
"protein_id": "ENSP00000561638.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 716,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891579.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Val527Ile",
"transcript": "ENST00000891576.1",
"protein_id": "ENSP00000561635.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 708,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891576.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Val526Ile",
"transcript": "ENST00000891577.1",
"protein_id": "ENSP00000561636.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 707,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891577.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1570G>A",
"hgvs_p": "p.Val524Ile",
"transcript": "ENST00000891580.1",
"protein_id": "ENSP00000561639.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 705,
"cds_start": 1570,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891580.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Ile",
"transcript": "ENST00000960170.1",
"protein_id": "ENSP00000630229.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 701,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960170.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"transcript": "ENST00000891575.1",
"protein_id": "ENSP00000561634.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 695,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891575.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Ile",
"transcript": "ENST00000960169.1",
"protein_id": "ENSP00000630228.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 694,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960169.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Val505Ile",
"transcript": "ENST00000891573.1",
"protein_id": "ENSP00000561632.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 686,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891573.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Val485Ile",
"transcript": "ENST00000891574.1",
"protein_id": "ENSP00000561633.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 666,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891574.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Val559Ile",
"transcript": "ENST00000960168.1",
"protein_id": "ENSP00000630227.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 623,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960168.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Val423Ile",
"transcript": "ENST00000458644.6",
"protein_id": "ENSP00000402972.2",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 604,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458644.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Val379Ile",
"transcript": "ENST00000891578.1",
"protein_id": "ENSP00000561637.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 560,
"cds_start": 1135,
"cds_end": null,
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{
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
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"acmg_score": -8,
"acmg_classification": "Benign",
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{
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"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Benign",
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{
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],
"verdict": "Likely_benign",
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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
}