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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: 12-131124981-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=131124981&ref=A&alt=G&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": "ADGRD1",
"hgnc_id": 19893,
"hgvs_c": "c.2271+4068A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001330497.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 26601,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.23,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.2300000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 874,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": null,
"cds_end": null,
"cds_length": 2625,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198827.5",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2175+4068A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261654.10",
"protein_coding": true,
"protein_id": "NP_942122.2",
"strand": true,
"transcript": "NM_198827.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 874,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": null,
"cds_end": null,
"cds_length": 2625,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261654.10",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2175+4068A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198827.5",
"protein_coding": true,
"protein_id": "ENSP00000261654.5",
"strand": true,
"transcript": "ENST00000261654.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 906,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": null,
"cds_end": null,
"cds_length": 2721,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535015.5",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2271+4068A>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444425.1",
"strand": true,
"transcript": "ENST00000535015.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543617.2",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.732+4068A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438021.1",
"strand": true,
"transcript": "ENST00000543617.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335486.10",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.22-6744A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334127.7",
"strand": true,
"transcript": "ENST00000335486.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 906,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5486,
"cdna_start": null,
"cds_end": null,
"cds_length": 2721,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330497.2",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2271+4068A>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317426.1",
"strand": true,
"transcript": "NM_001330497.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 897,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5078,
"cdna_start": null,
"cds_end": null,
"cds_length": 2694,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881063.1",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2244+4068A>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551122.1",
"strand": true,
"transcript": "ENST00000881063.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 874,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6570,
"cdna_start": null,
"cds_end": null,
"cds_length": 2625,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964278.1",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2175+4068A>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634337.1",
"strand": true,
"transcript": "ENST00000964278.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 846,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881062.1",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2091+4068A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551121.1",
"strand": true,
"transcript": "ENST00000881062.1",
"transcript_support_level": null
},
{
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"aa_length": 843,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5321,
"cdna_start": null,
"cds_end": null,
"cds_length": 2532,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881059.1",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2175+4068A>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551118.1",
"strand": true,
"transcript": "ENST00000881059.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "ENST00000881060.1",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.1959+4068A>G",
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"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551119.1",
"strand": true,
"transcript": "ENST00000881060.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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],
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"feature": "ENST00000881061.1",
"gene_hgnc_id": 19893,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551120.1",
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},
{
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],
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"feature": "XM_011538204.2",
"gene_hgnc_id": 19893,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011536506.1",
"strand": true,
"transcript": "XM_011538204.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "XM_011538205.2",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2091+4068A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011536507.1",
"strand": true,
"transcript": "XM_011538205.2",
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},
{
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],
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"feature": "XM_011538206.2",
"gene_hgnc_id": 19893,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011536508.1",
"strand": true,
"transcript": "XM_011538206.2",
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},
{
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],
"exon_count": 24,
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"feature": "XM_005253566.2",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.1995+4068A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005253623.1",
"strand": true,
"transcript": "XM_005253566.2",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 23,
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"feature": "XM_011538207.2",
"gene_hgnc_id": 19893,
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"hgvs_c": "c.2271+4068A>G",
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"protein_id": "XP_011536509.1",
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},
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],
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"feature": "XM_047428717.1",
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"strand": true,
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},
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],
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"feature": "XM_011538208.2",
"gene_hgnc_id": 19893,
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"strand": true,
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "XM_011538209.2",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.1768-6744A>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011536511.1",
"strand": true,
"transcript": "XM_011538209.2",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_length": 2208,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047428718.1",
"gene_hgnc_id": 19893,
"gene_symbol": "ADGRD1",
"hgvs_c": "c.2055+4068A>G",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284674.1",
"strand": true,
"transcript": "XM_047428718.1",
"transcript_support_level": null
},
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