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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: 1-42564117-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42564117&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42564117,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000657597.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.1141-2179A>G",
"hgvs_p": null,
"transcript": "NM_001395517.1",
"protein_id": "NP_001382446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": "ENST00000657597.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.1141-2179A>G",
"hgvs_p": null,
"transcript": "ENST00000657597.2",
"protein_id": "ENSP00000499662.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": "NM_001395517.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.28-2179A>G",
"hgvs_p": null,
"transcript": "ENST00000514642.1",
"protein_id": "ENSP00000499505.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.*1219-2179A>G",
"hgvs_p": null,
"transcript": "ENST00000477155.6",
"protein_id": "ENSP00000421479.3",
"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": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.611-2179A>G",
"hgvs_p": null,
"transcript": "ENST00000507855.5",
"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": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.805-2179A>G",
"hgvs_p": null,
"transcript": "ENST00000340612.6",
"protein_id": "ENSP00000340378.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": -4,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.898-2179A>G",
"hgvs_p": null,
"transcript": "ENST00000671538.1",
"protein_id": "ENSP00000499316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": -4,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.676-2179A>G",
"hgvs_p": null,
"transcript": "NM_001080850.4",
"protein_id": "NP_001074319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": -4,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.676-2179A>G",
"hgvs_p": null,
"transcript": "ENST00000342022.8",
"protein_id": "ENSP00000339280.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": -4,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.583-2179A>G",
"hgvs_p": null,
"transcript": "NM_001395379.1",
"protein_id": "NP_001382308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-2179A>G",
"hgvs_p": null,
"transcript": "NM_001395382.1",
"protein_id": "NP_001382311.1",
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"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": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.457-2179A>G",
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"transcript": "NM_001395383.1",
"protein_id": "NP_001382312.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.457-2179A>G",
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"transcript": "NM_001395384.1",
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},
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],
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.457-2179A>G",
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"transcript": "NM_001395385.1",
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},
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],
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.457-2179A>G",
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"transcript": "ENST00000660083.1",
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},
{
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],
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"exon_count": 17,
"intron_rank": 6,
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.457-2179A>G",
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"transcript": "ENST00000664805.1",
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},
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],
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.457-2179A>G",
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"transcript": "ENST00000667205.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.457-2179A>G",
"hgvs_p": null,
"transcript": "ENST00000668663.1",
"protein_id": "ENSP00000499699.1",
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},
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 6,
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"gene_symbol": "CCDC30",
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"transcript": "ENST00000665176.1",
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],
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"hgvs_c": "c.583-2179A>G",
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},
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],
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},
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"consequences": [
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],
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"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-231-2179A>G",
"hgvs_p": null,
"transcript": "NM_001355226.2",
"protein_id": "NP_001342155.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-231-2179A>G",
"hgvs_p": null,
"transcript": "NM_001355227.2",
"protein_id": "NP_001342156.1",
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