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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: 17-45451927-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45451927&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PLEKHM1",
"hgnc_id": 29017,
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014798.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 19437,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": null,
"cds_end": null,
"cds_length": 3171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014798.3",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000430334.8",
"protein_coding": true,
"protein_id": "NP_055613.1",
"strand": false,
"transcript": "NM_014798.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": null,
"cds_end": null,
"cds_length": 3171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000430334.8",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014798.3",
"protein_coding": true,
"protein_id": "ENSP00000389913.3",
"strand": false,
"transcript": "ENST00000430334.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000581448.5",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "n.*1105-1164C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462160.1",
"strand": false,
"transcript": "ENST00000581448.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": null,
"cds_end": null,
"cds_length": 3171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446609.7",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394344.3",
"strand": false,
"transcript": "ENST00000446609.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5380,
"cdna_start": null,
"cds_end": null,
"cds_length": 3171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958647.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628706.1",
"strand": false,
"transcript": "ENST00000958647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1041,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": null,
"cds_end": null,
"cds_length": 3126,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958646.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628705.1",
"strand": false,
"transcript": "ENST00000958646.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1035,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": null,
"cds_end": null,
"cds_length": 3108,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861476.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531535.1",
"strand": false,
"transcript": "ENST00000861476.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": null,
"cds_end": null,
"cds_length": 3171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025451.2",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880940.1",
"strand": false,
"transcript": "XM_017025451.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": null,
"cds_end": null,
"cds_length": 3171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437188.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293144.1",
"strand": false,
"transcript": "XM_047437188.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1005,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": null,
"cds_end": null,
"cds_length": 3018,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525525.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2345-1164C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523827.1",
"strand": false,
"transcript": "XM_011525525.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4614,
"cdna_start": null,
"cds_end": null,
"cds_length": 2985,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437189.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2498-1164C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293145.1",
"strand": false,
"transcript": "XM_047437189.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 6454,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "XM_047437190.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2297-1164C>T",
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047293146.1",
"strand": false,
"transcript": "XM_047437190.1",
"transcript_support_level": null
},
{
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],
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"feature": "XM_017025452.2",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2231-1164C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880941.1",
"strand": false,
"transcript": "XM_017025452.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2832,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437191.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2345-1164C>T",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293147.1",
"strand": false,
"transcript": "XM_047437191.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
"exon_count": 10,
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"feature": "XM_006722201.5",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2108-1164C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006722264.1",
"strand": false,
"transcript": "XM_006722201.5",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 4859,
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"cds_end": null,
"cds_length": 2781,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437192.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.2108-1164C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293148.1",
"strand": false,
"transcript": "XM_047437192.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": null,
"cds_end": null,
"cds_length": 1608,
"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525528.3",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "c.935-1164C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011523830.1",
"strand": false,
"transcript": "XM_011525528.3",
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},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
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"consequences": [
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],
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"feature": "ENST00000579197.5",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "n.*2058-1164C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000462282.1",
"strand": false,
"transcript": "ENST00000579197.5",
"transcript_support_level": 2
},
{
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],
"exon_count": 11,
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"feature": "ENST00000700123.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "n.*2075-1164C>T",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000514812.1",
"strand": false,
"transcript": "ENST00000700123.1",
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},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700124.1",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "n.*2240-1164C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514813.1",
"strand": false,
"transcript": "ENST00000700124.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_027774.2",
"gene_hgnc_id": 29017,
"gene_symbol": "PLEKHM1",
"hgvs_c": "n.2361-1164C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_027774.2",
"transcript_support_level": null
},
{
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