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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: 21-46551626-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46551626&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46551626,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000417564.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2840-8G>A",
"hgvs_p": null,
"transcript": "NM_015151.4",
"protein_id": "NP_055966.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1571,
"cds_start": -4,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7350,
"mane_select": "ENST00000417564.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2840-8G>A",
"hgvs_p": null,
"transcript": "ENST00000417564.3",
"protein_id": "ENSP00000392066.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1571,
"cds_start": -4,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7350,
"mane_select": "NM_015151.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2840-8G>A",
"hgvs_p": null,
"transcript": "NM_001410751.1",
"protein_id": "NP_001397680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2840-8G>A",
"hgvs_p": null,
"transcript": "ENST00000651436.1",
"protein_id": "ENSP00000498874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2843-8G>A",
"hgvs_p": null,
"transcript": "NM_001353942.2",
"protein_id": "NP_001340871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": -4,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2840-8G>A",
"hgvs_p": null,
"transcript": "NM_001353943.2",
"protein_id": "NP_001340872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1571,
"cds_start": -4,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2828-8G>A",
"hgvs_p": null,
"transcript": "NM_001146116.2",
"protein_id": "NP_001139588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1567,
"cds_start": -4,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2828-8G>A",
"hgvs_p": null,
"transcript": "ENST00000400274.5",
"protein_id": "ENSP00000383133.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1567,
"cds_start": -4,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "n.2840-8G>A",
"hgvs_p": null,
"transcript": "ENST00000850580.1",
"protein_id": "ENSP00000520868.1",
"transcript_support_level": null,
"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": 7119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2945-8G>A",
"hgvs_p": null,
"transcript": "XM_047440707.1",
"protein_id": "XP_047296663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1616,
"cds_start": -4,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
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"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2945-8G>A",
"hgvs_p": null,
"transcript": "XM_017028293.2",
"protein_id": "XP_016883782.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1606,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2843-8G>A",
"hgvs_p": null,
"transcript": "XM_047440708.1",
"protein_id": "XP_047296664.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2816-8G>A",
"hgvs_p": null,
"transcript": "XM_047440710.1",
"protein_id": "XP_047296666.1",
"transcript_support_level": null,
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"cdna_start": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 23,
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"gene_symbol": "DIP2A",
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"hgvs_c": "c.2816-8G>A",
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"transcript": "XM_047440711.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2711-8G>A",
"hgvs_p": null,
"transcript": "XM_047440712.1",
"protein_id": "XP_047296668.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
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"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 22,
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"gene_symbol": "DIP2A",
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"hgvs_c": "c.2711-8G>A",
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"transcript": "XM_047440713.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 24,
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"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2948-8G>A",
"hgvs_p": null,
"transcript": "XM_047440714.1",
"protein_id": "XP_047296670.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1525,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2588-8G>A",
"hgvs_p": null,
"transcript": "XM_047440715.1",
"protein_id": "XP_047296671.1",
"transcript_support_level": null,
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 22,
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"gene_symbol": "DIP2A",
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"hgvs_c": "c.2588-8G>A",
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"transcript": "XM_017028302.3",
"protein_id": "XP_016883791.1",
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},
{
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"strand": true,
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"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2948-8G>A",
"hgvs_p": null,
"transcript": "XM_047440716.1",
"protein_id": "XP_047296672.1",
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},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2948-8G>A",
"hgvs_p": null,
"transcript": "XM_011529501.2",
"protein_id": "XP_011527803.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DIP2A",
"gene_hgnc_id": 17217,
"hgvs_c": "c.2945-8G>A",
"hgvs_p": null,
"transcript": "XM_047440717.1",
"protein_id": "XP_047296673.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.478,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BA1"
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"verdict": "Benign",
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"effects": [
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],
"clinvar_disease": "DIP2A-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "DIP2A-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}