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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: 1-231762845-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=231762845&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 231762845,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000602956.5",
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "NM_018662.3",
"protein_id": "NP_061132.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "ENST00000439617.8",
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000439617.8",
"protein_id": "ENSP00000403888.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "NM_018662.3",
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000366637.8",
"protein_id": "ENSP00000355597.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": -4,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6848,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000366633.7",
"protein_id": "ENSP00000355593.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2676,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000535983.5",
"protein_id": "ENSP00000443996.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2505,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000366636.8",
"protein_id": "ENSP00000355596.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000602281.5",
"protein_id": "ENSP00000473425.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000539444.5",
"protein_id": "ENSP00000440953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2658,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000628350.2",
"protein_id": "ENSP00000487190.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": -4,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2363,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.219-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000602873.5",
"protein_id": "ENSP00000473386.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "n.*1130-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000422590.6",
"protein_id": "ENSP00000415147.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TSNAX-DISC1",
"gene_hgnc_id": 49177,
"hgvs_c": "n.*1130-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000602956.5",
"protein_id": "ENSP00000473532.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": 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": 5,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1365-4295A>G",
"hgvs_p": null,
"transcript": "NM_001164537.2",
"protein_id": "NP_001158009.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 4,
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"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "NM_001012957.2",
"protein_id": "NP_001012975.1",
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},
{
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"strand": true,
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],
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"intron_rank": 4,
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"gene_symbol": "DISC1",
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"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "NM_001164538.2",
"protein_id": "NP_001158010.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
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"transcript": "NM_001164539.2",
"protein_id": "NP_001158011.1",
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},
{
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],
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"gene_symbol": "DISC1",
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"hgvs_c": "c.1268+12769A>G",
"hgvs_p": null,
"transcript": "NM_001164540.2",
"protein_id": "NP_001158012.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "NM_001164541.2",
"protein_id": "NP_001158013.1",
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "DISC1",
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"hgvs_c": "c.1269-4295A>G",
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"transcript": "NM_001164542.2",
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},
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],
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"gene_symbol": "DISC1",
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"hgvs_c": "c.1269-4295A>G",
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"transcript": "NM_001012959.2",
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},
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],
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"intron_rank": 4,
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"gene_symbol": "DISC1",
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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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "ENST00000537876.5",
"protein_id": "ENSP00000440909.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DISC1",
"gene_hgnc_id": 2888,
"hgvs_c": "c.1269-4295A>G",
"hgvs_p": null,
"transcript": "NM_001164545.2",
"protein_id": "NP_001158017.1",
"transcript_support_level": null,
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}
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.9,
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"phylop100way_score": -0.27,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000602956.5",
"gene_symbol": "TSNAX-DISC1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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},
{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000439617.8",
"gene_symbol": "DISC1",
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"effects": [
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"inheritance_mode": "AR",
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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
}