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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: 6-43524804-T-TCCTTCCCCCATG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43524804&ref=T&alt=TCCTTCCCCCATG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43524804,
"ref": "T",
"alt": "TCCTTCCCCCATG",
"effect": "intron_variant",
"transcript": "NM_020750.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3312+15_3312+26dupCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "NM_020750.3",
"protein_id": "NP_065801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1204,
"cds_start": null,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265351.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020750.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3312+26_3312+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000265351.12",
"protein_id": "ENSP00000265351.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1204,
"cds_start": null,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020750.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265351.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.922+3756_922+3757insCCTTCCCCCATG",
"hgvs_p": null,
"transcript": "ENST00000304004.7",
"protein_id": "ENSP00000307212.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304004.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3309+26_3309+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000943409.1",
"protein_id": "ENSP00000613468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": null,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943409.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3300+26_3300+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000943413.1",
"protein_id": "ENSP00000613472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1200,
"cds_start": null,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3180+26_3180+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000943411.1",
"protein_id": "ENSP00000613470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": null,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943411.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3156+26_3156+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000943412.1",
"protein_id": "ENSP00000613471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3312+26_3312+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000943415.1",
"protein_id": "ENSP00000613474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3117+26_3117+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000943408.1",
"protein_id": "ENSP00000613467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1139,
"cds_start": null,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.3067-800_3067-799insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000943410.1",
"protein_id": "ENSP00000613469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": null,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.1557+26_1557+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000943414.1",
"protein_id": "ENSP00000613473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943414.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.*17+3487_*17+3488insCCTTCCCCCATG",
"hgvs_p": null,
"transcript": "ENST00000908069.1",
"protein_id": "ENSP00000578128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908069.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.922+3756_922+3757insCCTTCCCCCATG",
"hgvs_p": null,
"transcript": "ENST00000646433.1",
"protein_id": "ENSP00000494368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
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"cds_length": 1032,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646433.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.922+3765_922+3776dupCATGCCTTCCCC",
"hgvs_p": null,
"transcript": "NM_001318876.2",
"protein_id": "NP_001305805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318876.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.922+3756_922+3757insCCTTCCCCCATG",
"hgvs_p": null,
"transcript": "ENST00000607635.2",
"protein_id": "ENSP00000496683.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000607635.2"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.922+3765_922+3776dupCATGCCTTCCCC",
"hgvs_p": null,
"transcript": "NM_001363658.2",
"protein_id": "NP_001350587.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001363658.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.922+3756_922+3757insCCTTCCCCCATG",
"hgvs_p": null,
"transcript": "ENST00000643341.1",
"protein_id": "ENSP00000496018.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 307,
"cds_start": null,
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"cds_length": 924,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643341.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "c.*17+3487_*17+3488insCCTTCCCCCATG",
"hgvs_p": null,
"transcript": "ENST00000643799.1",
"protein_id": "ENSP00000494529.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000643799.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "c.654+26_654+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000455285.2",
"protein_id": "ENSP00000387384.2",
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"biotype": "protein_coding",
"feature": "ENST00000455285.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "n.1795+26_1795+27insCATGGGGGAAGG",
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"transcript": "ENST00000455854.2",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000455854.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "n.*317+26_*317+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000486936.2",
"protein_id": "ENSP00000426185.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486936.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "n.709+26_709+27insCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "ENST00000488195.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488195.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR1C",
"gene_hgnc_id": 20194,
"hgvs_c": "n.922+3756_922+3757insCCTTCCCCCATG",
"hgvs_p": null,
"transcript": "ENST00000646700.1",
"protein_id": "ENSP00000495521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"hgvs_c": "n.3624+15_3624+26dupCATGGGGGAAGG",
"hgvs_p": null,
"transcript": "NR_144392.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144392.2"
}
],
"gene_symbol": "XPO5",
"gene_hgnc_id": 17675,
"dbsnp": "rs369159546",
"frequency_reference_population": 0.01606211,
"hom_count_reference_population": 362,
"allele_count_reference_population": 25883,
"gnomad_exomes_af": 0.014944,
"gnomad_genomes_af": 0.0267841,
"gnomad_exomes_ac": 21807,
"gnomad_genomes_ac": 4076,
"gnomad_exomes_homalt": 249,
"gnomad_genomes_homalt": 113,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.002,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020750.3",
"gene_symbol": "XPO5",
"hgnc_id": 17675,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3312+15_3312+26dupCATGGGGGAAGG",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001318876.2",
"gene_symbol": "POLR1C",
"hgnc_id": 20194,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.922+3765_922+3776dupCATGCCTTCCCC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}