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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: 9-108874918-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=108874918&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 108874918,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000374647.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3908A>G",
"hgvs_p": "p.Gln1303Arg",
"transcript": "NM_003640.5",
"protein_id": "NP_003631.2",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3908,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 4224,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": "ENST00000374647.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3908A>G",
"hgvs_p": "p.Gln1303Arg",
"transcript": "ENST00000374647.10",
"protein_id": "ENSP00000363779.5",
"transcript_support_level": 1,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3908,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 4224,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": "NM_003640.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.2861A>G",
"hgvs_p": "p.Gln954Arg",
"transcript": "ENST00000537196.1",
"protein_id": "ENSP00000439367.1",
"transcript_support_level": 1,
"aa_start": 954,
"aa_end": null,
"aa_length": 983,
"cds_start": 2861,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 3258,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.*2518A>G",
"hgvs_p": null,
"transcript": "ENST00000495759.6",
"protein_id": "ENSP00000433514.2",
"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": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.*2518A>G",
"hgvs_p": null,
"transcript": "ENST00000495759.6",
"protein_id": "ENSP00000433514.2",
"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": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3950A>G",
"hgvs_p": "p.Gln1317Arg",
"transcript": "ENST00000675825.1",
"protein_id": "ENSP00000502632.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3950,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 4255,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3908A>G",
"hgvs_p": "p.Gln1303Arg",
"transcript": "ENST00000675052.1",
"protein_id": "ENSP00000502664.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3908,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 4213,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3908A>G",
"hgvs_p": "p.Gln1303Arg",
"transcript": "ENST00000675406.1",
"protein_id": "ENSP00000501893.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3908,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 4211,
"cdna_end": null,
"cdna_length": 5879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Gln1284Arg",
"transcript": "ENST00000676237.1",
"protein_id": "ENSP00000501828.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1313,
"cds_start": 3851,
"cds_end": null,
"cds_length": 3942,
"cdna_start": 4156,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3608A>G",
"hgvs_p": "p.Gln1203Arg",
"transcript": "ENST00000676416.1",
"protein_id": "ENSP00000501660.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3608,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3566A>G",
"hgvs_p": "p.Gln1189Arg",
"transcript": "NM_001318360.2",
"protein_id": "NP_001305289.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 5768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3566A>G",
"hgvs_p": "p.Gln1189Arg",
"transcript": "ENST00000674938.1",
"protein_id": "ENSP00000502427.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.3566A>G",
"hgvs_p": "p.Gln1189Arg",
"transcript": "ENST00000674948.1",
"protein_id": "ENSP00000501602.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 4283,
"cdna_end": null,
"cdna_length": 5951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "c.2861A>G",
"hgvs_p": "p.Gln954Arg",
"transcript": "NM_001330749.2",
"protein_id": "NP_001317678.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 983,
"cds_start": 2861,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 4036,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.6993A>G",
"hgvs_p": null,
"transcript": "ENST00000674704.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.791A>G",
"hgvs_p": null,
"transcript": "ENST00000674740.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.4521A>G",
"hgvs_p": null,
"transcript": "ENST00000674836.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.*1143A>G",
"hgvs_p": null,
"transcript": "ENST00000674890.1",
"protein_id": "ENSP00000501870.1",
"transcript_support_level": null,
"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": 5903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.*111A>G",
"hgvs_p": null,
"transcript": "ENST00000675078.1",
"protein_id": "ENSP00000501549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.*3132A>G",
"hgvs_p": null,
"transcript": "ENST00000675215.1",
"protein_id": "ENSP00000502558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.5735A>G",
"hgvs_p": null,
"transcript": "ENST00000675233.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.1784A>G",
"hgvs_p": null,
"transcript": "ENST00000675252.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP1",
"gene_hgnc_id": 5959,
"hgvs_c": "n.*241A>G",
"hgvs_p": null,
"transcript": "ENST00000675321.1",
"protein_id": "ENSP00000502751.1",
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}