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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: 16-670986-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=670986&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 670986,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001352275.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245Gln",
"transcript": "NM_138769.3",
"protein_id": "NP_620124.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 618,
"cds_start": 734,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315082.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138769.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245Gln",
"transcript": "ENST00000315082.9",
"protein_id": "ENSP00000321971.4",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 618,
"cds_start": 734,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138769.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315082.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "NM_001352275.2",
"protein_id": "NP_001339204.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 619,
"cds_start": 737,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352275.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000697194.1",
"protein_id": "ENSP00000513180.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 619,
"cds_start": 737,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697194.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000958324.1",
"protein_id": "ENSP00000628383.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 617,
"cds_start": 737,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958324.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245Gln",
"transcript": "ENST00000927722.1",
"protein_id": "ENSP00000597781.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 616,
"cds_start": 734,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927722.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238Gln",
"transcript": "ENST00000858880.1",
"protein_id": "ENSP00000528939.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 611,
"cds_start": 713,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858880.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "ENST00000858881.1",
"protein_id": "ENSP00000528940.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 607,
"cds_start": 701,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858881.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245Gln",
"transcript": "ENST00000858879.1",
"protein_id": "ENSP00000528938.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 602,
"cds_start": 734,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858879.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"transcript": "NM_001352276.2",
"protein_id": "NP_001339205.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 601,
"cds_start": 683,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352276.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"transcript": "NM_001352277.2",
"protein_id": "NP_001339206.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 600,
"cds_start": 680,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352277.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245Gln",
"transcript": "ENST00000927721.1",
"protein_id": "ENSP00000597780.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 592,
"cds_start": 734,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927721.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"transcript": "NM_001352278.2",
"protein_id": "NP_001339207.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 585,
"cds_start": 635,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352278.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "ENST00000958325.1",
"protein_id": "ENSP00000628384.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 581,
"cds_start": 701,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958325.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "NM_001352279.2",
"protein_id": "NP_001339208.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 567,
"cds_start": 581,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352279.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000927720.1",
"protein_id": "ENSP00000597779.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 567,
"cds_start": 581,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927720.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"transcript": "NM_001352280.2",
"protein_id": "NP_001339209.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 512,
"cds_start": 416,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352280.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138Gln",
"transcript": "NM_001352281.2",
"protein_id": "NP_001339210.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 511,
"cds_start": 413,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352281.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138Gln",
"transcript": "NM_001352282.2",
"protein_id": "NP_001339211.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 511,
"cds_start": 413,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352282.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118Gln",
"transcript": "NM_001352283.2",
"protein_id": "NP_001339212.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 491,
"cds_start": 353,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352283.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"transcript": "NM_001352284.2",
"protein_id": "NP_001339213.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 479,
"cds_start": 317,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352284.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105Gln",
"transcript": "NM_001352285.2",
"protein_id": "NP_001339214.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 478,
"cds_start": 314,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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