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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: 9-114351457-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114351457&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114351457,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_030767.5",
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "NM_001317950.2",
"protein_id": "NP_001304879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374088.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317950.2"
},
{
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "ENST00000374088.8",
"protein_id": "ENSP00000363201.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001317950.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374088.8"
},
{
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "ENST00000307564.8",
"protein_id": "ENSP00000303769.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307564.8"
},
{
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.2816-436G>A",
"hgvs_p": null,
"transcript": "ENST00000374075.9",
"protein_id": "ENSP00000363188.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1358,
"cds_start": null,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374075.9"
},
{
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "NM_030767.5",
"protein_id": "NP_110394.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030767.5"
},
{
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "ENST00000902400.1",
"protein_id": "ENSP00000572459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902400.1"
},
{
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "ENST00000902401.1",
"protein_id": "ENSP00000572460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902401.1"
},
{
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.2702-436G>A",
"hgvs_p": null,
"transcript": "NM_001317952.1",
"protein_id": "NP_001304881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": null,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317952.1"
},
{
"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": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.1439-436G>A",
"hgvs_p": null,
"transcript": "ENST00000223791.7",
"protein_id": "ENSP00000223791.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": null,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223791.7"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "XM_005252244.3",
"protein_id": "XP_005252301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252244.3"
},
{
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "XM_005252245.2",
"protein_id": "XP_005252302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252245.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 14,
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"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "XM_005252247.6",
"protein_id": "XP_005252304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252247.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
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"transcript": "XM_006717294.2",
"protein_id": "XP_006717357.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_006717294.2"
},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 14,
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"gene_symbol": "AKNA",
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"hgvs_c": "c.3059-436G>A",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "XM_047423922.1",
"protein_id": "XP_047279878.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047423922.1"
},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
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"transcript": "XM_005252248.4",
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"biotype": "protein_coding",
"feature": "XM_005252248.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.2906-436G>A",
"hgvs_p": null,
"transcript": "XM_047423923.1",
"protein_id": "XP_047279879.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "XM_047423923.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.2858-436G>A",
"hgvs_p": null,
"transcript": "XM_047423924.1",
"protein_id": "XP_047279880.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "XM_047423924.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.2828-436G>A",
"hgvs_p": null,
"transcript": "XM_047423925.1",
"protein_id": "XP_047279881.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "AKNA",
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"hgvs_c": "c.2702-436G>A",
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"protein_id": "XP_011517365.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "AKNA",
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"hgvs_c": "c.2702-436G>A",
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"transcript": "XM_011519065.3",
"protein_id": "XP_011517367.2",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011519065.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "AKNA",
"gene_hgnc_id": 24108,
"hgvs_c": "c.3059-436G>A",
"hgvs_p": null,
"transcript": "XM_011519064.3",
"protein_id": "XP_011517366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1229,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519064.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
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{
"aa_ref": null,
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"intron_variant"
],
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"biotype": "pseudogene",
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],
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"gnomad_genomes_af": 0.415149,
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"gnomad_genomes_ac": 63067,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 15043,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.225,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_030767.5",
"gene_symbol": "AKNA",
"hgnc_id": 24108,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3059-436G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}