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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: 17-65646424-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=65646424&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 65646424,
"ref": "G",
"alt": "A",
"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": 24,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2698-5359C>T",
"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": 24,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2698-5359C>T",
"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": 22,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2572-5359C>T",
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.466-5359C>T",
"hgvs_p": null,
"transcript": "ENST00000317442.12",
"protein_id": "ENSP00000320592.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1035,
"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": 24,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2701-5359C>T",
"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": 24,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2698-5359C>T",
"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": 24,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2698-5359C>T",
"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": 22,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2572-5359C>T",
"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": 22,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2572-5359C>T",
"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
},
{
"aa_ref": 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": 23,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2557-5359C>T",
"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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"cds_length": 2727,
"cdna_start": null,
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"cdna_length": 3204,
"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": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2494-5359C>T",
"hgvs_p": null,
"transcript": "ENST00000706793.1",
"protein_id": "ENSP00000516556.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 887,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "CEP112",
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"hgvs_c": "c.466-5359C>T",
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"transcript": "NM_001037325.3",
"protein_id": "NP_001032402.1",
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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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"exon_count": 5,
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"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.250-9236C>T",
"hgvs_p": null,
"transcript": "ENST00000581739.5",
"protein_id": "ENSP00000464597.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "CEP112",
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"hgvs_c": "n.725-5359C>T",
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"transcript": "ENST00000580694.5",
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},
{
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],
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"gene_symbol": "CEP112",
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"hgvs_c": "n.*65-5359C>T",
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"transcript": "ENST00000581734.5",
"protein_id": "ENSP00000462567.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "CEP112",
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"hgvs_c": "n.570-5359C>T",
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},
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],
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"gene_symbol": "CEP112",
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"hgvs_c": "n.178-5359C>T",
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"transcript": "ENST00000583466.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "n.*1941-5359C>T",
"hgvs_p": null,
"transcript": "ENST00000706790.1",
"protein_id": "ENSP00000516553.1",
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},
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CEP112",
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"hgvs_c": "n.*2196-5359C>T",
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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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],
"exon_rank": null,
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"gene_symbol": "CEP112",
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"hgvs_c": "n.*2065-5359C>T",
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"transcript": "ENST00000706794.1",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "n.448-5359C>T",
"hgvs_p": null,
"transcript": "NR_126542.2",
"protein_id": 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,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2701-5359C>T",
"hgvs_p": null,
"transcript": "XM_005257119.6",
"protein_id": "XP_005257176.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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},
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}