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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: 6-142320469-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142320469&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142320469,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000367609.8",
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.103+10825T>C",
"hgvs_p": null,
"transcript": "NM_198569.3",
"protein_id": "NP_940971.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6822,
"mane_select": "ENST00000367609.8",
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.103+10825T>C",
"hgvs_p": null,
"transcript": "ENST00000367609.8",
"protein_id": "ENSP00000356581.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6822,
"mane_select": "NM_198569.3",
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.103+10825T>C",
"hgvs_p": null,
"transcript": "ENST00000367608.6",
"protein_id": "ENSP00000356580.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6879,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.103+10825T>C",
"hgvs_p": null,
"transcript": "ENST00000230173.10",
"protein_id": "ENSP00000230173.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1221,
"cds_start": -4,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7026,
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.103+10825T>C",
"hgvs_p": null,
"transcript": "ENST00000296932.13",
"protein_id": "ENSP00000296932.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1193,
"cds_start": -4,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6784,
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.103+10825T>C",
"hgvs_p": null,
"transcript": "NM_001032395.3",
"protein_id": "NP_001027567.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6738,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.103+10825T>C",
"hgvs_p": null,
"transcript": "NM_020455.6",
"protein_id": "NP_065188.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1221,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6868,
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.103+10825T>C",
"hgvs_p": null,
"transcript": "NM_001032394.3",
"protein_id": "NP_001027566.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1193,
"cds_start": -4,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6784,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.100+10825T>C",
"hgvs_p": null,
"transcript": "ENST00000541199.5",
"protein_id": "ENSP00000446287.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 724,
"cdna_start": null,
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"cdna_length": 844,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ADGRG6",
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"hgvs_c": "c.100+10825T>C",
"hgvs_p": null,
"transcript": "ENST00000435011.6",
"protein_id": "ENSP00000438366.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ADGRG6",
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"hgvs_c": "n.483+10825T>C",
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"transcript": "ENST00000415128.6",
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},
{
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],
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},
{
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],
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},
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],
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"gene_symbol": "ADGRG6",
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},
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],
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},
{
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],
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},
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],
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],
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},
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],
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},
{
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}
],
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"gnomad_genomes_ac": 16378,
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"gnomad_genomes_homalt": 1173,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.056,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367609.8",
"gene_symbol": "ADGRG6",
"hgnc_id": 13841,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.103+10825T>C",
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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
}