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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: 8-18729794-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18729794&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18729794,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000327040.13",
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2172+35655A>G",
"hgvs_p": null,
"transcript": "NM_015310.4",
"protein_id": "NP_056125.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": "ENST00000327040.13",
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2172+35655A>G",
"hgvs_p": null,
"transcript": "ENST00000327040.13",
"protein_id": "ENSP00000324127.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": "NM_015310.4",
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1977+35655A>G",
"hgvs_p": null,
"transcript": "ENST00000523619.5",
"protein_id": "ENSP00000430640.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8145,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.570+35655A>G",
"hgvs_p": null,
"transcript": "ENST00000286485.12",
"protein_id": "ENSP00000286485.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6665,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000187229",
"gene_hgnc_id": 58211,
"hgvs_c": "n.290-346T>C",
"hgvs_p": null,
"transcript": "ENST00000524252.1",
"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": 2054,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2556+5441A>G",
"hgvs_p": null,
"transcript": "NM_001412866.1",
"protein_id": "NP_001399795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1175,
"cds_start": -4,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12244,
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2475+35655A>G",
"hgvs_p": null,
"transcript": "NM_001412865.1",
"protein_id": "NP_001399794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12163,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2211+35655A>G",
"hgvs_p": null,
"transcript": "NM_001412875.1",
"protein_id": "NP_001399804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1060,
"cds_start": -4,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11885,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2169+35655A>G",
"hgvs_p": null,
"transcript": "NM_001412876.1",
"protein_id": "NP_001399805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1046,
"cds_start": -4,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
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"cdna_length": 11780,
"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,
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"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2082+69501A>G",
"hgvs_p": null,
"transcript": "NM_001412873.1",
"protein_id": "NP_001399802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"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,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2073+35655A>G",
"hgvs_p": null,
"transcript": "NM_001362819.2",
"protein_id": "NP_001349748.1",
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},
{
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"strand": false,
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],
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"transcript": "NM_001412871.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 9,
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"gene_symbol": "PSD3",
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"hgvs_c": "c.2172+35655A>G",
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"transcript": "NM_001412870.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PSD3",
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"hgvs_c": "c.1980+69501A>G",
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},
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],
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"gene_symbol": "PSD3",
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"transcript": "NM_001412874.1",
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},
{
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],
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"gene_symbol": "PSD3",
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},
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],
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"gene_symbol": "PSD3",
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "PSD3",
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"hgvs_c": "c.2070+35655A>G",
"hgvs_p": null,
"transcript": "NM_001412880.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "PSD3",
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],
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},
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],
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "PSD3",
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"hgvs_c": "c.495+35655A>G",
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"transcript": "NM_001412886.1",
"protein_id": "NP_001399815.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PSD3",
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"hgvs_c": "c.495+35655A>G",
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"transcript": "NM_001412888.1",
"protein_id": "NP_001399817.1",
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{
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{
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],
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"clinvar_review_status": "",
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}
],
"message": null
}