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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: 10-14909102-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=14909102&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 14909102,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000378278.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Glu462Val",
"transcript": "NM_001033855.3",
"protein_id": "NP_001029027.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 692,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": "ENST00000378278.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Glu462Val",
"transcript": "ENST00000378278.7",
"protein_id": "ENSP00000367527.2",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 692,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": "NM_001033855.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1043A>T",
"hgvs_p": null,
"transcript": "ENST00000357717.6",
"protein_id": "ENSP00000350349.3",
"transcript_support_level": 1,
"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": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1002A>T",
"hgvs_p": null,
"transcript": "ENST00000378246.6",
"protein_id": "ENSP00000367492.3",
"transcript_support_level": 1,
"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": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1163A>T",
"hgvs_p": null,
"transcript": "ENST00000378249.5",
"protein_id": "ENSP00000367496.2",
"transcript_support_level": 1,
"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": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1345A>T",
"hgvs_p": null,
"transcript": "ENST00000378254.5",
"protein_id": "ENSP00000367502.2",
"transcript_support_level": 1,
"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": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1667A>T",
"hgvs_p": null,
"transcript": "ENST00000378255.5",
"protein_id": "ENSP00000367503.2",
"transcript_support_level": 1,
"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": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1305A>T",
"hgvs_p": null,
"transcript": "ENST00000378258.5",
"protein_id": "ENSP00000367506.2",
"transcript_support_level": 1,
"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": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1627A>T",
"hgvs_p": null,
"transcript": "ENST00000396817.6",
"protein_id": "ENSP00000380030.3",
"transcript_support_level": 1,
"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": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1043A>T",
"hgvs_p": null,
"transcript": "ENST00000357717.6",
"protein_id": "ENSP00000350349.3",
"transcript_support_level": 1,
"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": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1002A>T",
"hgvs_p": null,
"transcript": "ENST00000378246.6",
"protein_id": "ENSP00000367492.3",
"transcript_support_level": 1,
"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": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1163A>T",
"hgvs_p": null,
"transcript": "ENST00000378249.5",
"protein_id": "ENSP00000367496.2",
"transcript_support_level": 1,
"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": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1345A>T",
"hgvs_p": null,
"transcript": "ENST00000378254.5",
"protein_id": "ENSP00000367502.2",
"transcript_support_level": 1,
"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": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1667A>T",
"hgvs_p": null,
"transcript": "ENST00000378255.5",
"protein_id": "ENSP00000367503.2",
"transcript_support_level": 1,
"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": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1305A>T",
"hgvs_p": null,
"transcript": "ENST00000378258.5",
"protein_id": "ENSP00000367506.2",
"transcript_support_level": 1,
"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": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1627A>T",
"hgvs_p": null,
"transcript": "ENST00000396817.6",
"protein_id": "ENSP00000380030.3",
"transcript_support_level": 1,
"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": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1157-9790A>T",
"hgvs_p": null,
"transcript": "ENST00000378289.8",
"protein_id": "ENSP00000367538.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Glu462Val",
"transcript": "ENST00000697070.1",
"protein_id": "ENSP00000513085.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 725,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1442A>T",
"hgvs_p": "p.Glu481Val",
"transcript": "ENST00000697084.1",
"protein_id": "ENSP00000513098.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 711,
"cds_start": 1442,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Glu462Val",
"transcript": "ENST00000697075.1",
"protein_id": "ENSP00000513090.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 692,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Glu462Val",
"transcript": "NM_001350965.2",
"protein_id": "NP_001337894.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 614,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Glu462Val",
"transcript": "ENST00000697047.1",
"protein_id": "ENSP00000513066.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 614,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Glu347Val",
"transcript": "NM_001289076.2",
"protein_id": "NP_001276005.1",
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},
{
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"protein_coding": false,
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"3_prime_UTR_variant"
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"exon_count": 13,
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"gene_symbol": "DCLRE1C",
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"transcript": "ENST00000697083.1",
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},
{
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"protein_coding": false,
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"3_prime_UTR_variant"
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"exon_rank": 15,
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"gene_symbol": "DCLRE1C",
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"transcript": "ENST00000697085.1",
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},
{
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"protein_coding": true,
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"3_prime_UTR_variant"
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"gene_symbol": "DCLRE1C",
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"transcript": "XM_011519620.4",
"protein_id": "XP_011517922.1",
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},
{
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"protein_coding": false,
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"intron_variant"
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"gene_symbol": "DCLRE1C",
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "DCLRE1C",
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"transcript": "ENST00000697087.1",
"protein_id": "ENSP00000513100.1",
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"aa_end": null,
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"cds_end": null,
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"cdna_length": 1488,
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"feature": null
}
],
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"dbsnp": "rs115250914",
"frequency_reference_population": 0.00010906477,
"hom_count_reference_population": 0,
"allele_count_reference_population": 176,
"gnomad_exomes_af": 0.000104006,
"gnomad_genomes_af": 0.000157615,
"gnomad_exomes_ac": 152,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03060072660446167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.1239,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.482,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000378278.7",
"gene_symbol": "DCLRE1C",
"hgnc_id": 17642,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Glu462Val"
}
],
"clinvar_disease": "Histiocytic medullary reticulosis,Severe combined immunodeficiency due to DCLRE1C deficiency,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Severe combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis|Histiocytic medullary reticulosis;Severe combined immunodeficiency due to DCLRE1C deficiency|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}