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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: 17-66102427-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=66102427&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 66102427,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000535342.7",
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.643-5795A>G",
"hgvs_p": null,
"transcript": "NM_001199165.4",
"protein_id": "NP_001186094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": "ENST00000535342.7",
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.643-5795A>G",
"hgvs_p": null,
"transcript": "ENST00000535342.7",
"protein_id": "ENSP00000442784.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": "NM_001199165.4",
"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": 25,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.642+27319A>G",
"hgvs_p": null,
"transcript": "ENST00000537949.5",
"protein_id": "ENSP00000440775.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2847,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.643-5795A>G",
"hgvs_p": null,
"transcript": "ENST00000583358.1",
"protein_id": "ENSP00000463914.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1902,
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.643-5795A>G",
"hgvs_p": null,
"transcript": "NM_001353129.2",
"protein_id": "NP_001340058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3450,
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.643-5795A>G",
"hgvs_p": null,
"transcript": "NM_001353127.2",
"protein_id": "NP_001340056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3544,
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.643-5795A>G",
"hgvs_p": null,
"transcript": "ENST00000392769.6",
"protein_id": "ENSP00000376522.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3517,
"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": 25,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.642+27319A>G",
"hgvs_p": null,
"transcript": "NM_001302891.3",
"protein_id": "NP_001289820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3418,
"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": 25,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.642+27319A>G",
"hgvs_p": null,
"transcript": "NM_001353128.2",
"protein_id": "NP_001340057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.643-5795A>G",
"hgvs_p": null,
"transcript": "ENST00000706795.1",
"protein_id": "ENSP00000516558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 908,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 5,
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"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.564+30243A>G",
"hgvs_p": null,
"transcript": "ENST00000706793.1",
"protein_id": "ENSP00000516556.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CEP112",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "CEP112",
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"transcript": "ENST00000706791.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "CEP112",
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},
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "CEP112",
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"hgvs_c": "n.772-5795A>G",
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],
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "CEP112",
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"hgvs_c": "c.643-5795A>G",
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"transcript": "XM_005257119.6",
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],
"exon_rank": null,
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],
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},
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],
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"hgvs_c": "c.643-5795A>G",
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"transcript": "XM_047435528.1",
"protein_id": "XP_047291484.1",
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},
{
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],
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"intron_rank": 6,
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}