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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: 5-150521433-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150521433&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NDST1",
"hgnc_id": 7680,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001543.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 58,
"alphamissense_prediction": null,
"alphamissense_score": 0.064,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15785232186317444,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 882,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8011,
"cdna_start": 662,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001543.5",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261797.7",
"protein_coding": true,
"protein_id": "NP_001534.1",
"strand": true,
"transcript": "NM_001543.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 882,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8011,
"cdna_start": 662,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000261797.7",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001543.5",
"protein_coding": true,
"protein_id": "ENSP00000261797.6",
"strand": true,
"transcript": "ENST00000261797.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4110,
"cdna_start": 661,
"cds_end": null,
"cds_length": 2688,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000891672.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561731.1",
"strand": true,
"transcript": "ENST00000891672.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 827,
"cds_end": null,
"cds_length": 2688,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000965562.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635621.1",
"strand": true,
"transcript": "ENST00000965562.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 891,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 658,
"cds_end": null,
"cds_length": 2676,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000965563.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635622.1",
"strand": true,
"transcript": "ENST00000965563.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 882,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4426,
"cdna_start": 942,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000891667.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561726.1",
"strand": true,
"transcript": "ENST00000891667.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 882,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4408,
"cdna_start": 924,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891668.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561727.1",
"strand": true,
"transcript": "ENST00000891668.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 882,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4273,
"cdna_start": 863,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891669.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561728.1",
"strand": true,
"transcript": "ENST00000891669.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 882,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": 714,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000891674.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561733.1",
"strand": true,
"transcript": "ENST00000891674.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 882,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 725,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000891675.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561734.1",
"strand": true,
"transcript": "ENST00000891675.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 882,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4031,
"cdna_start": 621,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000891676.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561735.1",
"strand": true,
"transcript": "ENST00000891676.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 882,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4101,
"cdna_start": 709,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891677.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561736.1",
"strand": true,
"transcript": "ENST00000891677.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8247,
"cdna_start": 898,
"cds_end": null,
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"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937575.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607634.1",
"strand": true,
"transcript": "ENST00000937575.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 882,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8236,
"cdna_start": 887,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937577.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607636.1",
"strand": true,
"transcript": "ENST00000937577.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": 804,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937578.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607637.1",
"strand": true,
"transcript": "ENST00000937578.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4216,
"cdna_start": 806,
"cds_end": null,
"cds_length": 2649,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937579.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607638.1",
"strand": true,
"transcript": "ENST00000937579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 882,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4287,
"cdna_start": 881,
"cds_end": null,
"cds_length": 2649,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": 3,
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"feature": "ENST00000965561.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635620.1",
"strand": true,
"transcript": "ENST00000965561.1",
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},
{
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 15,
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"exon_rank_end": null,
"feature": "ENST00000937576.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000607635.1",
"strand": true,
"transcript": "ENST00000937576.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 799,
"cds_end": null,
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"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
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"feature": "ENST00000891673.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000561732.1",
"strand": true,
"transcript": "ENST00000891673.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5741,
"cdna_start": 657,
"cds_end": null,
"cds_length": 2529,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000965559.1",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635618.1",
"strand": true,
"transcript": "ENST00000965559.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 825,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7945,
"cdna_start": 767,
"cds_end": null,
"cds_length": 2478,
"cds_start": 179,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001301063.2",
"gene_hgnc_id": 7680,
"gene_symbol": "NDST1",
"hgvs_c": "c.179C>T",
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