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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: 6-157207091-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157207091&ref=G&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157207091,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6319G>C",
"hgvs_p": "p.Glu2107Gln",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2372,
"cds_start": 6319,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 6622,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6319G>C",
"hgvs_p": "p.Glu2107Gln",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2372,
"cds_start": 6319,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 6622,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6199G>C",
"hgvs_p": "p.Glu2067Gln",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 2067,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6199,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 7125,
"cdna_end": null,
"cdna_length": 10813,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6160G>C",
"hgvs_p": "p.Glu2054Gln",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 2054,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6160,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 6160,
"cdna_end": null,
"cdna_length": 8211,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3661G>C",
"hgvs_p": "p.Glu1221Gln",
"transcript": "ENST00000637810.1",
"protein_id": "ENSP00000489636.1",
"transcript_support_level": 1,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3661,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 3803,
"cdna_end": null,
"cdna_length": 5073,
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6448G>C",
"hgvs_p": "p.Glu2150Gln",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2415,
"cds_start": 6448,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 6751,
"cdna_end": null,
"cdna_length": 10439,
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6448G>C",
"hgvs_p": "p.Glu2150Gln",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2415,
"cds_start": 6448,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 6448,
"cdna_end": null,
"cdna_length": 8616,
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6361G>C",
"hgvs_p": "p.Glu2121Gln",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 2121,
"aa_end": null,
"aa_length": 2386,
"cds_start": 6361,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 6664,
"cdna_end": null,
"cdna_length": 10352,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6229G>C",
"hgvs_p": "p.Glu2077Gln",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6229,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6532,
"cdna_end": null,
"cdna_length": 10220,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6229G>C",
"hgvs_p": "p.Glu2077Gln",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 2077,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6229,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6229,
"cdna_end": null,
"cdna_length": 8280,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6202G>C",
"hgvs_p": "p.Glu2068Gln",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 2068,
"aa_end": null,
"aa_length": 2333,
"cds_start": 6202,
"cds_end": null,
"cds_length": 7002,
"cdna_start": 6505,
"cdna_end": null,
"cdna_length": 10193,
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6199G>C",
"hgvs_p": "p.Glu2067Gln",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 2067,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6199,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 7119,
"cdna_end": null,
"cdna_length": 10807,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6199G>C",
"hgvs_p": "p.Glu2067Gln",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 2067,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6199,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 6502,
"cdna_end": null,
"cdna_length": 10190,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6160G>C",
"hgvs_p": "p.Glu2054Gln",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
"transcript_support_level": null,
"aa_start": 2054,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6160,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 6463,
"cdna_end": null,
"cdna_length": 10151,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6139G>C",
"hgvs_p": "p.Glu2047Gln",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 2047,
"aa_end": null,
"aa_length": 2312,
"cds_start": 6139,
"cds_end": null,
"cds_length": 6939,
"cdna_start": 6442,
"cdna_end": null,
"cdna_length": 10130,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3820G>C",
"hgvs_p": "p.Glu1274Gln",
"transcript": "NM_001363725.2",
"protein_id": "NP_001350654.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1539,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4209,
"cdna_end": null,
"cdna_length": 7897,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3820G>C",
"hgvs_p": "p.Glu1274Gln",
"transcript": "ENST00000637904.1",
"protein_id": "ENSP00000490550.1",
"transcript_support_level": 5,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1539,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4321,
"cdna_end": null,
"cdna_length": 5913,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3661G>C",
"hgvs_p": "p.Glu1221Gln",
"transcript": "NM_001438488.1",
"protein_id": "NP_001425417.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3661,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 4050,
"cdna_end": null,
"cdna_length": 7738,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3640G>C",
"hgvs_p": "p.Glu1214Gln",
"transcript": "ENST00000635849.1",
"protein_id": "ENSP00000490948.1",
"transcript_support_level": 5,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1479,
"cds_start": 3640,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 4227,
"cdna_end": null,
"cdna_length": 5830,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3271G>C",
"hgvs_p": "p.Glu1091Gln",
"transcript": "ENST00000635957.1",
"protein_id": "ENSP00000490385.1",
"transcript_support_level": 5,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3271,
"cds_end": null,
"cds_length": 4048,
"cdna_start": 3271,
"cdna_end": null,
"cdna_length": 4048,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.475G>C",
"hgvs_p": "p.Glu159Gln",
"transcript": "ENST00000635928.1",
"protein_id": "ENSP00000489717.1",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 312,
"cds_start": 475,
"cds_end": null,
"cds_length": 939,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1551,
"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": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6529G>C",
"hgvs_p": "p.Glu2177Gln",
"transcript": "XM_011535984.3",
"protein_id": "XP_011534286.3",
"transcript_support_level": null,
"aa_start": 2177,
"aa_end": null,
"aa_length": 2442,
"cds_start": 6529,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 6832,
"cdna_end": null,
"cdna_length": 10520,
"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"
],
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}
],
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}