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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: 2-135985437-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135985437&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135985437,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "NM_001349.4",
"protein_id": "NP_001340.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 501,
"cds_start": 32,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": "ENST00000264161.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000264161.9",
"protein_id": "ENSP00000264161.4",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 501,
"cds_start": 32,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": "NM_001349.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264161.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000952144.1",
"protein_id": "ENSP00000622203.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 499,
"cds_start": 32,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952144.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000952145.1",
"protein_id": "ENSP00000622204.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952145.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000952147.1",
"protein_id": "ENSP00000622206.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 487,
"cds_start": 32,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 135,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952147.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000888460.1",
"protein_id": "ENSP00000558519.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 481,
"cds_start": 32,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888460.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000888461.1",
"protein_id": "ENSP00000558520.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 470,
"cds_start": 32,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888461.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000952146.1",
"protein_id": "ENSP00000622205.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 456,
"cds_start": 32,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952146.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000939648.1",
"protein_id": "ENSP00000609707.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 454,
"cds_start": 32,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939648.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.32A>G",
"hgvs_p": "p.Gln11Arg",
"transcript": "ENST00000888462.1",
"protein_id": "ENSP00000558521.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 452,
"cds_start": 32,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.-211A>G",
"hgvs_p": null,
"transcript": "NM_001293312.1",
"protein_id": "NP_001280241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293312.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.-34+376A>G",
"hgvs_p": null,
"transcript": "ENST00000441323.5",
"protein_id": "ENSP00000389867.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441323.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.-34+493A>G",
"hgvs_p": null,
"transcript": "ENST00000456565.5",
"protein_id": "ENSP00000397616.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456565.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "c.-34+357A>G",
"hgvs_p": null,
"transcript": "ENST00000449218.5",
"protein_id": "ENSP00000388801.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449218.5"
},
{
"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": "DARS1-AS1",
"gene_hgnc_id": 40170,
"hgvs_c": "n.262T>C",
"hgvs_p": null,
"transcript": "ENST00000419808.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 772,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000419808.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1",
"gene_hgnc_id": 2678,
"hgvs_c": "n.127A>G",
"hgvs_p": null,
"transcript": "ENST00000435076.1",
"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": 717,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000435076.1"
},
{
"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": "DARS1-AS1",
"gene_hgnc_id": 40170,
"hgvs_c": "n.308T>C",
"hgvs_p": null,
"transcript": "ENST00000438432.7",
"protein_id": null,
"transcript_support_level": 3,
"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": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000438432.7"
},
{
"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": "DARS1-AS1",
"gene_hgnc_id": 40170,
"hgvs_c": "n.104T>C",
"hgvs_p": null,
"transcript": "ENST00000444406.1",
"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": 442,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000444406.1"
},
{
"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": "DARS1-AS1",
"gene_hgnc_id": 40170,
"hgvs_c": "n.314T>C",
"hgvs_p": null,
"transcript": "ENST00000692958.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692958.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1-AS1",
"gene_hgnc_id": 40170,
"hgvs_c": "n.308T>C",
"hgvs_p": null,
"transcript": "ENST00000701667.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000701667.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1-AS1",
"gene_hgnc_id": 40170,
"hgvs_c": "n.310T>C",
"hgvs_p": null,
"transcript": "ENST00000702825.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000702825.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DARS1-AS1",
"gene_hgnc_id": 40170,
"hgvs_c": "n.316T>C",
"hgvs_p": null,
"transcript": "ENST00000717303.1",
"protein_id": null,
"transcript_support_level": null,
"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": 919,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000717303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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{
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349.4",
"gene_symbol": "DARS1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000444406.1",
"gene_symbol": "DARS1-AS1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}