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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: 20-46352198-GAT-CAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46352198&ref=GAT&alt=CAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35H1",
"hgnc_id": 17117,
"hgvs_c": "c.775_777delATCinsGTG",
"hgvs_p": "p.Ile259Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001281458.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35C2",
"hgnc_id": 17117,
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000243896.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5820,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015945.12",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35H1",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372230.10",
"protein_coding": true,
"protein_id": "NP_057029.8",
"strand": false,
"transcript": "NM_015945.12",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5820,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372230.10",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015945.12",
"protein_coding": true,
"protein_id": "ENSP00000361304.5",
"strand": false,
"transcript": "ENST00000372230.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000243896.6",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000243896.2",
"strand": false,
"transcript": "ENST00000243896.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372227.5",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361301.1",
"strand": false,
"transcript": "ENST00000372227.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 344,
"aa_ref": "I",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5740,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1035,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543605.5",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.625_627delATCinsGTG",
"hgvs_p": "p.Ile209Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439974.2",
"strand": false,
"transcript": "ENST00000543605.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 394,
"aa_ref": "I",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5688,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1185,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001281458.2",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35H1",
"hgvs_c": "c.775_777delATCinsGTG",
"hgvs_p": "p.Ile259Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268387.1",
"strand": false,
"transcript": "NM_001281458.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 394,
"aa_ref": "I",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1185,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317734.12",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.775_777delATCinsGTG",
"hgvs_p": "p.Ile259Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318960.9",
"strand": false,
"transcript": "ENST00000317734.12",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 379,
"aa_ref": "I",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1140,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873054.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.730_732delATCinsGTG",
"hgvs_p": "p.Ile244Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543113.1",
"strand": false,
"transcript": "ENST00000873054.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 375,
"aa_ref": "I",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1128,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947091.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.718_720delATCinsGTG",
"hgvs_p": "p.Ile240Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617150.1",
"strand": false,
"transcript": "ENST00000947091.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 374,
"aa_ref": "I",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1125,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947090.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.715_717delATCinsGTG",
"hgvs_p": "p.Ile239Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617149.1",
"strand": false,
"transcript": "ENST00000947090.1",
"transcript_support_level": null
},
{
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"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001281460.2",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35H1",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268389.1",
"strand": false,
"transcript": "NM_001281460.2",
"transcript_support_level": null
},
{
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"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 1197,
"cds_end": null,
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"cds_start": 688,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "NM_173179.4",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35H1",
"hgvs_c": "c.688_690delATCinsGTG",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775271.1",
"strand": false,
"transcript": "NM_173179.4",
"transcript_support_level": null
},
{
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"aa_length": 365,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873046.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543105.1",
"strand": false,
"transcript": "ENST00000873046.1",
"transcript_support_level": null
},
{
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"aa_length": 365,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 1010,
"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000873047.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
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"hgvs_p": "p.Ile230Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543106.1",
"strand": false,
"transcript": "ENST00000873047.1",
"transcript_support_level": null
},
{
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"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873050.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543109.1",
"strand": false,
"transcript": "ENST00000873050.1",
"transcript_support_level": null
},
{
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"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873051.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543110.1",
"strand": false,
"transcript": "ENST00000873051.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cds_end": null,
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],
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"feature": "ENST00000873052.1",
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"hgvs_c": "c.688_690delATCinsGTG",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000873052.1",
"transcript_support_level": null
},
{
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"aa_length": 365,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_length": 2253,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873056.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000873056.1",
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},
{
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"aa_length": 365,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_length": 1644,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873057.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543116.1",
"strand": false,
"transcript": "ENST00000873057.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 365,
"aa_ref": "I",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1098,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873058.1",
"gene_hgnc_id": 17117,
"gene_symbol": "SLC35C2",
"hgvs_c": "c.688_690delATCinsGTG",
"hgvs_p": "p.Ile230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543117.1",
"strand": false,
"transcript": "ENST00000873058.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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}