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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: 1-51832797-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51832797&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 51832797,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_002525.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
"hgvs_p": null,
"transcript": "NM_001101662.2",
"protein_id": "NP_001095132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": null,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352171.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101662.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000352171.12",
"protein_id": "ENSP00000262679.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": null,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001101662.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352171.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1070+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000354831.11",
"protein_id": "ENSP00000346890.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": null,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354831.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.674+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000539524.5",
"protein_id": "ENSP00000444416.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": null,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539524.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1115+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000911777.1",
"protein_id": "ENSP00000581836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1234,
"cds_start": null,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1070+1220C>T",
"hgvs_p": null,
"transcript": "NM_002525.3",
"protein_id": "NP_002516.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": null,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002525.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1070+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000963645.1",
"protein_id": "ENSP00000633704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": null,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1061+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000911782.1",
"protein_id": "ENSP00000581841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": null,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1019+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000911787.1",
"protein_id": "ENSP00000581846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": null,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1070+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000963648.1",
"protein_id": "ENSP00000633707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": null,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1070+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000911778.1",
"protein_id": "ENSP00000581837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
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"cds_length": 3576,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911778.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1070+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000888752.1",
"protein_id": "ENSP00000558811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888752.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.1070+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000911788.1",
"protein_id": "ENSP00000581847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911788.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.920+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000888746.1",
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"cdna_start": null,
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"feature": "ENST00000888746.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000888750.1",
"protein_id": "ENSP00000558809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888750.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.890+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000911781.1",
"protein_id": "ENSP00000581840.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000911781.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000888744.1",
"protein_id": "ENSP00000558803.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1153,
"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": "ENST00000888744.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000963644.1",
"protein_id": "ENSP00000633703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000963644.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000911775.1",
"protein_id": "ENSP00000581834.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
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"transcript": "ENST00000888749.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000911780.1",
"protein_id": "ENSP00000581839.1",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911780.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRDC",
"gene_hgnc_id": 7995,
"hgvs_c": "c.866+1220C>T",
"hgvs_p": null,
"transcript": "ENST00000888754.1",
"protein_id": "ENSP00000558813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
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"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.031,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002525.3",
"gene_symbol": "NRDC",
"hgnc_id": 7995,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1070+1220C>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
}