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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: 9-85987480-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=85987480&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 85987480,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_024635.4",
"consequences": [
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "NM_024635.4",
"protein_id": "NP_078911.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361671.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024635.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000361671.10",
"protein_id": "ENSP00000354972.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024635.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361671.10"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "NM_001321881.2",
"protein_id": "NP_001308810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321881.2"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "NM_001321882.2",
"protein_id": "NP_001308811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321882.2"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000910060.1",
"protein_id": "ENSP00000580119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910060.1"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000910062.1",
"protein_id": "ENSP00000580121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910062.1"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000910063.1",
"protein_id": "ENSP00000580122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910063.1"
},
{
"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": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000910065.1",
"protein_id": "ENSP00000580124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": null,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910065.1"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000935822.1",
"protein_id": "ENSP00000605881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": null,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935822.1"
},
{
"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": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.851-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000910066.1",
"protein_id": "ENSP00000580125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": null,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910066.1"
},
{
"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": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.827-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000910061.1",
"protein_id": "ENSP00000580120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": null,
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"cds_length": 2127,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000910061.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
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"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000910067.1",
"protein_id": "ENSP00000580126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910067.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
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"gene_symbol": "NAA35",
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"hgvs_c": "c.878-8919G>A",
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"transcript": "ENST00000910069.1",
"protein_id": "ENSP00000580128.1",
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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",
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},
{
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"canonical": false,
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 10,
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"gene_symbol": "NAA35",
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"transcript": "ENST00000910070.1",
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"feature": "ENST00000910070.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.803-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000970125.1",
"protein_id": "ENSP00000640184.1",
"transcript_support_level": 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": "ENST00000970125.1"
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
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"gene_symbol": "NAA35",
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"hgvs_c": "c.878-8919G>A",
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"transcript": "ENST00000910064.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.710-8919G>A",
"hgvs_p": null,
"transcript": "ENST00000935821.1",
"protein_id": "ENSP00000605880.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000935821.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.762+10034G>A",
"hgvs_p": null,
"transcript": "ENST00000910068.1",
"protein_id": "ENSP00000580127.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NAA35",
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"hgvs_c": "c.878-8919G>A",
"hgvs_p": null,
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank_end": null,
"gene_symbol": "NAA35",
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"hgvs_c": "c.410-8919G>A",
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"transcript": "XM_047423710.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.218-8919G>A",
"hgvs_p": null,
"transcript": "XM_024447648.2",
"protein_id": "XP_024303416.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447648.2"
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"hgvs_c": "c.86-8919G>A",
"hgvs_p": null,
"transcript": "XM_024447649.2",
"protein_id": "XP_024303417.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 461,
"cds_start": null,
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"cds_length": 1386,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447649.2"
}
],
"gene_symbol": "NAA35",
"gene_hgnc_id": 24340,
"dbsnp": "rs10512170",
"frequency_reference_population": 0.1369277,
"hom_count_reference_population": 3793,
"allele_count_reference_population": 20833,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.136928,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 20833,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3793,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.204,
"phylop100way_prediction": "Benign",
"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": -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_024635.4",
"gene_symbol": "NAA35",
"hgnc_id": 24340,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.878-8919G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}