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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: 7-108160353-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108160353&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 108160353,
"ref": "T",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000379028.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3598+8A>C",
"hgvs_p": null,
"transcript": "NM_001037132.4",
"protein_id": "NP_001032209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": "ENST00000379028.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3598+8A>C",
"hgvs_p": null,
"transcript": "ENST00000379028.8",
"protein_id": "ENSP00000368314.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": "NM_001037132.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3262+8A>C",
"hgvs_p": null,
"transcript": "ENST00000379024.8",
"protein_id": "ENSP00000368310.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3235+8A>C",
"hgvs_p": null,
"transcript": "ENST00000351718.8",
"protein_id": "ENSP00000325269.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3607+8A>C",
"hgvs_p": null,
"transcript": "NM_001371156.1",
"protein_id": "NP_001358085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1307,
"cds_start": -4,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3598+8A>C",
"hgvs_p": null,
"transcript": "NM_001371131.1",
"protein_id": "NP_001358060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3562+8A>C",
"hgvs_p": null,
"transcript": "NM_001371169.1",
"protein_id": "NP_001358098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": -4,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3550+8A>C",
"hgvs_p": null,
"transcript": "NM_001371119.1",
"protein_id": "NP_001358048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": -4,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3541+8A>C",
"hgvs_p": null,
"transcript": "NM_001371124.1",
"protein_id": "NP_001358053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3541+8A>C",
"hgvs_p": null,
"transcript": "NM_001371126.1",
"protein_id": "NP_001358055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3541+8A>C",
"hgvs_p": null,
"transcript": "NM_001371172.1",
"protein_id": "NP_001358101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
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"cds_length": 3858,
"cdna_start": null,
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"cdna_length": 6644,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3505+8A>C",
"hgvs_p": null,
"transcript": "NM_001371146.1",
"protein_id": "NP_001358075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1273,
"cds_start": -4,
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"cds_length": 3822,
"cdna_start": null,
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"cdna_length": 6608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3436+8A>C",
"hgvs_p": null,
"transcript": "NM_001371138.1",
"protein_id": "NP_001358067.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1250,
"cds_start": -4,
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"cds_length": 3753,
"cdna_start": null,
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"cdna_length": 6539,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3415+8A>C",
"hgvs_p": null,
"transcript": "NM_001371158.1",
"protein_id": "NP_001358087.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3388+8A>C",
"hgvs_p": null,
"transcript": "NM_001371145.1",
"protein_id": "NP_001358074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1234,
"cds_start": -4,
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"cds_length": 3705,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3361+8A>C",
"hgvs_p": null,
"transcript": "NM_001371136.1",
"protein_id": "NP_001358065.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3352+8A>C",
"hgvs_p": null,
"transcript": "NM_001371140.1",
"protein_id": "NP_001358069.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1222,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3328+8A>C",
"hgvs_p": null,
"transcript": "NM_001371123.1",
"protein_id": "NP_001358052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"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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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3328+8A>C",
"hgvs_p": null,
"transcript": "NM_001371149.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3319+8A>C",
"hgvs_p": null,
"transcript": "NM_001193582.2",
"protein_id": "NP_001180511.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3319+8A>C",
"hgvs_p": null,
"transcript": "NM_001371128.1",
"protein_id": "NP_001358057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1211,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NRCAM",
"gene_hgnc_id": 7994,
"hgvs_c": "c.3319+8A>C",
"hgvs_p": null,
"transcript": "NM_001371144.1",
"protein_id": "NP_001358073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1211,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
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{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000379028.8",
"gene_symbol": "NRCAM",
"hgnc_id": 7994,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3598+8A>C",
"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
}