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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: 4-75500686-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=75500686&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 75500686,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000324439.10",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.327-6507C>T",
"hgvs_p": null,
"transcript": "NM_015436.4",
"protein_id": "NP_056251.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4408,
"mane_select": "ENST00000324439.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.327-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000324439.10",
"protein_id": "ENSP00000321239.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4408,
"mane_select": "NM_015436.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.327-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000513257.5",
"protein_id": "ENSP00000421084.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.207-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000380840.6",
"protein_id": "ENSP00000370220.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": -4,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.323-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000504085.5",
"protein_id": "ENSP00000421958.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.327-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000505105.5",
"protein_id": "ENSP00000424631.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.327-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000513083.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.327-6507C>T",
"hgvs_p": null,
"transcript": "NM_001009922.3",
"protein_id": "NP_001009922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.261-6507C>T",
"hgvs_p": null,
"transcript": "NM_001278538.2",
"protein_id": "NP_001265467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.261-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000512706.5",
"protein_id": "ENSP00000423976.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.207-6507C>T",
"hgvs_p": null,
"transcript": "NM_001278536.2",
"protein_id": "NP_001265465.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 221,
"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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "c.207-6507C>T",
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"transcript": "NM_001278537.2",
"protein_id": "NP_001265466.1",
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"cds_start": -4,
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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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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "RCHY1",
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"hgvs_c": "c.207-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000507014.1",
"protein_id": "ENSP00000424472.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "RCHY1",
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"hgvs_c": "c.-55-6507C>T",
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"transcript": "NM_001278539.2",
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},
{
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],
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"gene_symbol": "RCHY1",
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"hgvs_c": "c.-55-6507C>T",
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"transcript": "NM_001387136.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "RCHY1",
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"hgvs_c": "c.-55-6507C>T",
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"transcript": "NM_001387137.1",
"protein_id": "NP_001374066.1",
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},
{
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],
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"gene_symbol": "RCHY1",
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"hgvs_c": "n.748-6507C>T",
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"transcript": "ENST00000505514.5",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.335-6507C>T",
"hgvs_p": null,
"transcript": "ENST00000513909.5",
"protein_id": "ENSP00000427205.1",
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},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "RCHY1",
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"hgvs_c": "n.335-6507C>T",
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"transcript": "ENST00000514021.1",
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},
{
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],
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},
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"strand": false,
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],
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"gene_symbol": "RCHY1",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.467-6507C>T",
"hgvs_p": null,
"transcript": "NR_037914.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RCHY1",
"gene_hgnc_id": 17479,
"hgvs_c": "n.471-6507C>T",
"hgvs_p": null,
"transcript": "NR_103723.1",
"protein_id": null,
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},
{
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"computational_score_selected": -1,
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000324439.10",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}