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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: 16-670753-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=670753&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 670753,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000315082.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Glu207Gln",
"transcript": "NM_138769.3",
"protein_id": "NP_620124.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 618,
"cds_start": 619,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": "ENST00000315082.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Glu207Gln",
"transcript": "ENST00000315082.9",
"protein_id": "ENSP00000321971.4",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 618,
"cds_start": 619,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": "NM_138769.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Glu207Gln",
"transcript": "NM_001352275.2",
"protein_id": "NP_001339204.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 619,
"cds_start": 619,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Glu207Gln",
"transcript": "ENST00000697194.1",
"protein_id": "ENSP00000513180.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 619,
"cds_start": 619,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Glu189Gln",
"transcript": "NM_001352276.2",
"protein_id": "NP_001339205.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 601,
"cds_start": 565,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Glu189Gln",
"transcript": "NM_001352277.2",
"protein_id": "NP_001339206.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 600,
"cds_start": 565,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.298G>C",
"hgvs_p": "p.Glu100Gln",
"transcript": "NM_001352280.2",
"protein_id": "NP_001339209.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 512,
"cds_start": 298,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.298G>C",
"hgvs_p": "p.Glu100Gln",
"transcript": "NM_001352281.2",
"protein_id": "NP_001339210.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 511,
"cds_start": 298,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.298G>C",
"hgvs_p": "p.Glu100Gln",
"transcript": "NM_001352282.2",
"protein_id": "NP_001339211.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 511,
"cds_start": 298,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Glu80Gln",
"transcript": "NM_001352283.2",
"protein_id": "NP_001339212.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 491,
"cds_start": 238,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Glu186Gln",
"transcript": "ENST00000561929.1",
"protein_id": "ENSP00000456855.1",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 207,
"cds_start": 556,
"cds_end": null,
"cds_length": 625,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.298G>C",
"hgvs_p": "p.Glu100Gln",
"transcript": "XM_047434840.1",
"protein_id": "XP_047290796.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 512,
"cds_start": 298,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.298G>C",
"hgvs_p": "p.Glu100Gln",
"transcript": "XM_047434841.1",
"protein_id": "XP_047290797.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 512,
"cds_start": 298,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Glu80Gln",
"transcript": "XM_047434842.1",
"protein_id": "XP_047290798.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 492,
"cds_start": 238,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Glu80Gln",
"transcript": "XM_047434843.1",
"protein_id": "XP_047290799.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 492,
"cds_start": 238,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Glu80Gln",
"transcript": "XM_047434844.1",
"protein_id": "XP_047290800.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 492,
"cds_start": 238,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Glu80Gln",
"transcript": "XM_047434845.1",
"protein_id": "XP_047290801.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 491,
"cds_start": 238,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.238G>C",
"hgvs_p": "p.Glu80Gln",
"transcript": "XM_047434846.1",
"protein_id": "XP_047290802.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 491,
"cds_start": 238,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Glu207Gln",
"transcript": "XM_047434847.1",
"protein_id": "XP_047290803.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 473,
"cds_start": 619,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1604,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "n.*194G>C",
"hgvs_p": null,
"transcript": "ENST00000562333.5",
"protein_id": "ENSP00000457852.1",
"transcript_support_level": 5,
"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": 1052,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "n.*315G>C",
"hgvs_p": null,
"transcript": "ENST00000563637.5",
"protein_id": "ENSP00000458136.1",
"transcript_support_level": 5,
"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": 993,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "n.*371G>C",
"hgvs_p": null,
"transcript": "ENST00000566214.5",
"protein_id": "ENSP00000455138.1",
"transcript_support_level": 5,
"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": 683,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT2",
"gene_hgnc_id": 21169,
"hgvs_c": "n.537G>C",
"hgvs_p": null,
"transcript": "ENST00000566965.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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}