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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: 1-211310758-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=211310758&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 211310758,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001350069.2",
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1076-1962A>T",
"hgvs_p": null,
"transcript": "NM_001136223.3",
"protein_id": "NP_001129695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000419091.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136223.3"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1076-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000419091.7",
"protein_id": "ENSP00000413929.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136223.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419091.7"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.902-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000367005.8",
"protein_id": "ENSP00000355972.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367005.8"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1076-2666A>T",
"hgvs_p": null,
"transcript": "ENST00000367006.8",
"protein_id": "ENSP00000355973.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367006.8"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1175-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000905998.1",
"protein_id": "ENSP00000576057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905998.1"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1172-1962A>T",
"hgvs_p": null,
"transcript": "NM_001350069.2",
"protein_id": "NP_001336998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": null,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350069.2"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1172-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000905997.1",
"protein_id": "ENSP00000576056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": null,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905997.1"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1163-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000942863.1",
"protein_id": "ENSP00000612922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942863.1"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1160-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000906000.1",
"protein_id": "ENSP00000576059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 581,
"cds_start": null,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906000.1"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1070-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000905995.1",
"protein_id": "ENSP00000576054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": null,
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"cds_length": 1656,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905995.1"
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.998-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000905993.1",
"protein_id": "ENSP00000576052.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 527,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000905993.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1073-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000905999.1",
"protein_id": "ENSP00000576058.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 510,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905999.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.902-1962A>T",
"hgvs_p": null,
"transcript": "NM_018254.5",
"protein_id": "NP_060724.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_018254.5"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
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"gene_symbol": "RCOR3",
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"hgvs_c": "c.1079-2142A>T",
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"transcript": "ENST00000905994.1",
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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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1076-2142A>T",
"hgvs_p": null,
"transcript": "ENST00000905991.1",
"protein_id": "ENSP00000576050.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 493,
"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000905991.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.872-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000905996.1",
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"feature": "ENST00000905996.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1076-1962A>T",
"hgvs_p": null,
"transcript": "NM_001136225.3",
"protein_id": "NP_001129697.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001136225.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1076-1962A>T",
"hgvs_p": null,
"transcript": "ENST00000452621.6",
"protein_id": "ENSP00000398558.2",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"strand": true,
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],
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"intron_rank": 10,
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"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.1076-2666A>T",
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"transcript": "NM_001136224.4",
"protein_id": "NP_001129696.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.713-1962A>T",
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"transcript": "NM_001350070.2",
"protein_id": "NP_001336999.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
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"hgvs_c": "c.940-2666A>T",
"hgvs_p": null,
"transcript": "ENST00000905992.1",
"protein_id": "ENSP00000576051.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905992.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RCOR3",
"gene_hgnc_id": 25594,
"hgvs_c": "c.577-2666A>T",
"hgvs_p": null,
"transcript": "ENST00000942864.1",
"protein_id": "ENSP00000612923.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 306,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942864.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.459,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001350069.2",
"gene_symbol": "RCOR3",
"hgnc_id": 25594,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1172-1962A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}