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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: 17-82060770-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82060770&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82060770,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022156.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "NM_022156.5",
"protein_id": "NP_071439.3",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 473,
"cds_start": 953,
"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": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000306796.10",
"protein_id": "ENSP00000303515.5",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 473,
"cds_start": 953,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000354321.11",
"protein_id": "ENSP00000346280.7",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 473,
"cds_start": 953,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.554G>A",
"hgvs_p": "p.Arg185Lys",
"transcript": "ENST00000538833.6",
"protein_id": "ENSP00000445110.2",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 297,
"cds_start": 554,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000909426.1",
"protein_id": "ENSP00000579485.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 473,
"cds_start": 953,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000950985.1",
"protein_id": "ENSP00000621044.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 473,
"cds_start": 953,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000950986.1",
"protein_id": "ENSP00000621045.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 473,
"cds_start": 953,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000950990.1",
"protein_id": "ENSP00000621049.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 473,
"cds_start": 953,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Lys",
"transcript": "ENST00000909424.1",
"protein_id": "ENSP00000579483.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 465,
"cds_start": 929,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Lys",
"transcript": "ENST00000909425.1",
"protein_id": "ENSP00000579484.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 462,
"cds_start": 920,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Lys",
"transcript": "ENST00000950987.1",
"protein_id": "ENSP00000621046.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 445,
"cds_start": 869,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Arg287Lys",
"transcript": "ENST00000950989.1",
"protein_id": "ENSP00000621048.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 442,
"cds_start": 860,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Lys",
"transcript": "ENST00000950988.1",
"protein_id": "ENSP00000621047.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 429,
"cds_start": 821,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000542088.2",
"protein_id": "ENSP00000438718.2",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 238,
"cds_start": 5,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Lys",
"transcript": "XM_024450868.2",
"protein_id": "XP_024306636.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 572,
"cds_start": 1007,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Lys",
"transcript": "XM_047436519.1",
"protein_id": "XP_047292475.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 572,
"cds_start": 1007,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "XM_024450869.2",
"protein_id": "XP_024306637.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 555,
"cds_start": 956,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "XM_005256393.3",
"protein_id": "XP_005256450.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 554,
"cds_start": 953,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "XM_006722288.3",
"protein_id": "XP_006722351.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 537,
"cds_start": 902,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722288.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Lys",
"transcript": "XM_024450870.2",
"protein_id": "XP_024306638.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 491,
"cds_start": 1007,
"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": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Lys",
"transcript": "XM_006722289.3",
"protein_id": "XP_006722352.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 456,
"cds_start": 902,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS1L",
"gene_hgnc_id": 30086,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Lys",
"transcript": "XM_024450871.2",
"protein_id": "XP_024306639.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 448,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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},
{
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"consequences": [
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],
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{
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],
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},
{
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},
{
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],
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{
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],
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},
{
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"strand": false,
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],
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{
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],
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"biotype": "pseudogene",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "DUS1L",
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"transcript": "ENST00000582529.5",
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"biotype": "protein_coding",
"feature": "ENST00000582529.5"
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],
"gene_symbol": "DUS1L",
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"dbsnp": "rs888666543",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000123266,
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"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07452160120010376,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.74,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022156.5",
"gene_symbol": "DUS1L",
"hgnc_id": 30086,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}