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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: 17-82058370-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82058370&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82058370,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022156.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Arg418Pro",
"transcript": "NM_022156.5",
"protein_id": "NP_071439.3",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 473,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306796.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022156.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Arg418Pro",
"transcript": "ENST00000306796.10",
"protein_id": "ENSP00000303515.5",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 473,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022156.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306796.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Arg418Pro",
"transcript": "ENST00000354321.11",
"protein_id": "ENSP00000346280.7",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 473,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354321.11"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.846G>C",
"hgvs_p": "p.Ala282Ala",
"transcript": "ENST00000538833.6",
"protein_id": "ENSP00000445110.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 297,
"cds_start": 846,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538833.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Arg418Pro",
"transcript": "ENST00000909426.1",
"protein_id": "ENSP00000579485.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 473,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909426.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Arg418Pro",
"transcript": "ENST00000950985.1",
"protein_id": "ENSP00000621044.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 473,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950985.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Arg418Pro",
"transcript": "ENST00000950986.1",
"protein_id": "ENSP00000621045.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 473,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950986.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Arg418Pro",
"transcript": "ENST00000950990.1",
"protein_id": "ENSP00000621049.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 473,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950990.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1229G>C",
"hgvs_p": "p.Arg410Pro",
"transcript": "ENST00000909424.1",
"protein_id": "ENSP00000579483.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 465,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909424.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1220G>C",
"hgvs_p": "p.Arg407Pro",
"transcript": "ENST00000909425.1",
"protein_id": "ENSP00000579484.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 462,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909425.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1169G>C",
"hgvs_p": "p.Arg390Pro",
"transcript": "ENST00000950987.1",
"protein_id": "ENSP00000621046.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 445,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950987.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Arg387Pro",
"transcript": "ENST00000950989.1",
"protein_id": "ENSP00000621048.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 442,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950989.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1121G>C",
"hgvs_p": "p.Arg374Pro",
"transcript": "ENST00000950988.1",
"protein_id": "ENSP00000621047.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 429,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950988.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000577574.5",
"protein_id": "ENSP00000462812.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 151,
"cds_start": 230,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577574.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1307G>C",
"hgvs_p": "p.Arg436Pro",
"transcript": "XM_024450870.2",
"protein_id": "XP_024306638.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 491,
"cds_start": 1307,
"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": "XM_024450870.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1202G>C",
"hgvs_p": "p.Arg401Pro",
"transcript": "XM_006722289.3",
"protein_id": "XP_006722352.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 456,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722289.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.669G>C",
"hgvs_p": "p.Ala223Ala",
"transcript": "ENST00000542088.2",
"protein_id": "ENSP00000438718.2",
"transcript_support_level": 3,
"aa_start": 223,
"aa_end": null,
"aa_length": 238,
"cds_start": 669,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542088.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1671G>C",
"hgvs_p": "p.Ala557Ala",
"transcript": "XM_024450868.2",
"protein_id": "XP_024306636.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 572,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450868.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1671G>C",
"hgvs_p": "p.Ala557Ala",
"transcript": "XM_047436519.1",
"protein_id": "XP_047292475.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 572,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436519.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1620G>C",
"hgvs_p": "p.Ala540Ala",
"transcript": "XM_024450869.2",
"protein_id": "XP_024306637.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 555,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450869.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1617G>C",
"hgvs_p": "p.Ala539Ala",
"transcript": "XM_005256393.3",
"protein_id": "XP_005256450.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 554,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256393.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1566G>C",
"hgvs_p": "p.Ala522Ala",
"transcript": "XM_006722288.3",
"protein_id": "XP_006722351.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 537,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
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}
],
"message": null
}