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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: 14-72948525-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=72948525&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 72948525,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000358377.7",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.728+1334G>A",
"hgvs_p": null,
"transcript": "NM_015604.4",
"protein_id": "NP_056419.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": "ENST00000358377.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.728+1334G>A",
"hgvs_p": null,
"transcript": "ENST00000358377.7",
"protein_id": "ENSP00000351147.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": "NM_015604.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.428+1334G>A",
"hgvs_p": null,
"transcript": "ENST00000394234.6",
"protein_id": "ENSP00000377781.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.428+1334G>A",
"hgvs_p": null,
"transcript": "ENST00000553457.1",
"protein_id": "ENSP00000451186.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.495+2498G>A",
"hgvs_p": null,
"transcript": "ENST00000353777.7",
"protein_id": "ENSP00000345176.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.728+1334G>A",
"hgvs_p": null,
"transcript": "NM_001352449.2",
"protein_id": "NP_001339378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.728+1334G>A",
"hgvs_p": null,
"transcript": "NM_001163508.2",
"protein_id": "NP_001156980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.728+1334G>A",
"hgvs_p": null,
"transcript": "ENST00000555042.5",
"protein_id": "ENSP00000452131.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.728+1334G>A",
"hgvs_p": null,
"transcript": "NM_001352448.3",
"protein_id": "NP_001339377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2883,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.728+1334G>A",
"hgvs_p": null,
"transcript": "ENST00000850845.1",
"protein_id": "ENSP00000520934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.662+1334G>A",
"hgvs_p": null,
"transcript": "NM_001163509.2",
"protein_id": "NP_001156981.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
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"gene_symbol": "DCAF4",
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"hgvs_c": "c.728+1334G>A",
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"transcript": "ENST00000850844.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
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"gene_symbol": "DCAF4",
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"hgvs_c": "c.545+1334G>A",
"hgvs_p": null,
"transcript": "NM_181341.3",
"protein_id": "NP_851938.2",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "DCAF4",
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"hgvs_c": "c.545+1334G>A",
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"transcript": "ENST00000509153.5",
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},
{
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],
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"gene_symbol": "DCAF4",
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"hgvs_c": "c.428+1334G>A",
"hgvs_p": null,
"transcript": "NM_181340.3",
"protein_id": "NP_851937.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.83+1334G>A",
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"transcript": "NM_001352447.2",
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},
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],
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"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "n.*467+1334G>A",
"hgvs_p": null,
"transcript": "ENST00000509320.5",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 8,
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"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "n.812+1334G>A",
"hgvs_p": null,
"transcript": "NR_147990.2",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "DCAF4",
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"hgvs_c": "c.800+1334G>A",
"hgvs_p": null,
"transcript": "XM_047431254.1",
"protein_id": "XP_047287210.1",
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],
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"gene_symbol": "DCAF4",
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},
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],
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"hgvs_c": "c.800+1334G>A",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.800+1334G>A",
"hgvs_p": null,
"transcript": "XM_047431257.1",
"protein_id": "XP_047287213.1",
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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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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DCAF4",
"gene_hgnc_id": 20229,
"hgvs_c": "c.728+1334G>A",
"hgvs_p": null,
"transcript": "XM_017021205.2",
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}
],
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"gnomad_genomes_ac": 40826,
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"gnomad_genomes_homalt": 5914,
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"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
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{
"score": -12,
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"verdict": "Benign",
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}
],
"clinvar_disease": " mean leukocyte,Telomere length",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Telomere length, mean leukocyte",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}