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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: 10-14909130-CACAATCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=14909130&ref=CACAATCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 14909130,
"ref": "CACAATCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001033855.3",
"consequences": [
{
"aa_ref": "VDC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1350_1356delAGATTGT",
"hgvs_p": "p.Asp451fs",
"transcript": "NM_001033855.3",
"protein_id": "NP_001029027.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 692,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": "ENST00000378278.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033855.3"
},
{
"aa_ref": "VDC",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1350_1356delAGATTGT",
"hgvs_p": "p.Asp451fs",
"transcript": "ENST00000378278.7",
"protein_id": "ENSP00000367527.2",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 692,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": "NM_001033855.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378278.7"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1157-9825_1157-9819delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378289.8"
},
{
"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.*1008_*1014delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000357717.6"
},
{
"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.*967_*973delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378246.6"
},
{
"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.*1128_*1134delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378249.5"
},
{
"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.*1310_*1316delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378254.5"
},
{
"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.*1632_*1638delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378255.5"
},
{
"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.*1270_*1276delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378258.5"
},
{
"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.*1592_*1598delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000396817.6"
},
{
"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.*1008_*1014delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000357717.6"
},
{
"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.*967_*973delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378246.6"
},
{
"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.*1128_*1134delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378249.5"
},
{
"aa_ref": null,
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"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.*1310_*1316delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378254.5"
},
{
"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.*1632_*1638delAGATTGT",
"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": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378255.5"
},
{
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"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.*1270_*1276delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378258.5"
},
{
"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.*1592_*1598delAGATTGT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000396817.6"
},
{
"aa_ref": "VDC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1350_1356delAGATTGT",
"hgvs_p": "p.Asp451fs",
"transcript": "ENST00000697070.1",
"protein_id": "ENSP00000513085.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 725,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697070.1"
},
{
"aa_ref": "VDC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1407_1413delAGATTGT",
"hgvs_p": "p.Asp470fs",
"transcript": "ENST00000697084.1",
"protein_id": "ENSP00000513098.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 711,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697084.1"
},
{
"aa_ref": "VDC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1350_1356delAGATTGT",
"hgvs_p": "p.Asp451fs",
"transcript": "ENST00000697075.1",
"protein_id": "ENSP00000513090.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 692,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697075.1"
},
{
"aa_ref": "VDC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1290_1296delAGATTGT",
"hgvs_p": "p.Asp431fs",
"transcript": "ENST00000873030.1",
"protein_id": "ENSP00000543089.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 672,
"cds_start": 1290,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873030.1"
},
{
"aa_ref": "VDC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1248_1254delAGATTGT",
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"bayesdelnoaf_score": null,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"benign_score": 0,
"pathogenic_score": 22,
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],
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"transcript": "NM_001033855.3",
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Asp451fs"
}
],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Severe combined immunodeficiency, partial|Athabaskan severe combined immunodeficiency|Severe combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}