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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: 3-146079104-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146079104&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 146079104,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_182943.3",
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "NM_182943.3",
"protein_id": "NP_891988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282903.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182943.3"
},
{
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "ENST00000282903.10",
"protein_id": "ENSP00000282903.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182943.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282903.10"
},
{
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "ENST00000360060.7",
"protein_id": "ENSP00000353170.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": null,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360060.7"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.1835+12A>G",
"hgvs_p": null,
"transcript": "ENST00000478436.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478436.1"
},
{
"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": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "ENST00000703518.1",
"protein_id": "ENSP00000515350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703518.1"
},
{
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "ENST00000703522.1",
"protein_id": "ENSP00000515353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703522.1"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "ENST00000703527.1",
"protein_id": "ENSP00000515355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703527.1"
},
{
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1494+12A>G",
"hgvs_p": null,
"transcript": "ENST00000956318.1",
"protein_id": "ENSP00000626377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956318.1"
},
{
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1458+12A>G",
"hgvs_p": null,
"transcript": "ENST00000956314.1",
"protein_id": "ENSP00000626373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": null,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956314.1"
},
{
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "ENST00000956316.1",
"protein_id": "ENSP00000626375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
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"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956316.1"
},
{
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "NM_000935.3",
"protein_id": "NP_000926.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_000935.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 13,
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"gene_symbol": "PLOD2",
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"hgvs_c": "c.1500+12A>G",
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"transcript": "ENST00000703523.1",
"protein_id": "ENSP00000515354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000703523.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
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"transcript": "ENST00000956313.1",
"protein_id": "ENSP00000626372.1",
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"cds_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PLOD2",
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"hgvs_c": "c.1500+12A>G",
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"transcript": "ENST00000956315.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1395+12A>G",
"hgvs_p": null,
"transcript": "ENST00000956319.1",
"protein_id": "ENSP00000626378.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000956319.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 19,
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"gene_symbol": "PLOD2",
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"hgvs_c": "c.1500+12A>G",
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"transcript": "ENST00000956312.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 13,
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"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "ENST00000902447.1",
"protein_id": "ENSP00000572506.1",
"transcript_support_level": null,
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"feature": "ENST00000902447.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1374+12A>G",
"hgvs_p": null,
"transcript": "ENST00000956317.1",
"protein_id": "ENSP00000626376.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1416+12A>G",
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"transcript": "ENST00000469350.6",
"protein_id": "ENSP00000419963.2",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PLOD2",
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"hgvs_c": "c.1335+12A>G",
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"transcript": "ENST00000494950.5",
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},
{
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"strand": false,
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],
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"intron_rank_end": null,
"gene_symbol": "PLOD2",
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"hgvs_c": "c.1395+12A>G",
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"transcript": "ENST00000706635.1",
"protein_id": "ENSP00000516475.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000706635.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1500+12A>G",
"hgvs_p": null,
"transcript": "ENST00000706626.1",
"protein_id": "ENSP00000516472.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 699,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706626.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
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}