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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: 7-99598450-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99598450&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99598450,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001195541.3",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-85+69T>C",
"hgvs_p": null,
"transcript": "NM_001195541.3",
"protein_id": "NP_001182470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": "ENST00000431679.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195541.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-85+69T>C",
"hgvs_p": null,
"transcript": "ENST00000431679.6",
"protein_id": "ENSP00000492416.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": "NM_001195541.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431679.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272647",
"gene_hgnc_id": null,
"hgvs_c": "n.137-1758T>C",
"hgvs_p": null,
"transcript": "ENST00000455905.1",
"protein_id": "ENSP00000401282.1",
"transcript_support_level": 3,
"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": 830,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455905.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-82+69T>C",
"hgvs_p": null,
"transcript": "NM_001195542.3",
"protein_id": "NP_001182471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195542.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-85+78T>C",
"hgvs_p": null,
"transcript": "NM_001195543.3",
"protein_id": "NP_001182472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195543.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-85+78T>C",
"hgvs_p": null,
"transcript": "ENST00000453227.5",
"protein_id": "ENSP00000491691.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453227.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-82+456T>C",
"hgvs_p": null,
"transcript": "ENST00000877211.1",
"protein_id": "ENSP00000547270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877211.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-82+326T>C",
"hgvs_p": null,
"transcript": "ENST00000877213.1",
"protein_id": "ENSP00000547272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877213.1"
},
{
"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": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-85+303T>C",
"hgvs_p": null,
"transcript": "ENST00000877214.1",
"protein_id": "ENSP00000547273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877214.1"
},
{
"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": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-85+456T>C",
"hgvs_p": null,
"transcript": "ENST00000877212.1",
"protein_id": "ENSP00000547271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877212.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-144+69T>C",
"hgvs_p": null,
"transcript": "XM_011515691.3",
"protein_id": "XP_011513993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
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"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515691.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-141+69T>C",
"hgvs_p": null,
"transcript": "XM_011515692.3",
"protein_id": "XP_011513994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515692.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-141+78T>C",
"hgvs_p": null,
"transcript": "XM_011515694.3",
"protein_id": "XP_011513996.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 236,
"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": "XM_011515694.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "TMEM225B",
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"hgvs_c": "c.-144+78T>C",
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"transcript": "XM_011515695.3",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-144+303T>C",
"hgvs_p": null,
"transcript": "XM_011515696.3",
"protein_id": "XP_011513998.1",
"transcript_support_level": null,
"aa_start": null,
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"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": "XM_011515696.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-144+295T>C",
"hgvs_p": null,
"transcript": "XM_011515697.2",
"protein_id": "XP_011513999.1",
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"biotype": "protein_coding",
"feature": "XM_011515697.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-141+303T>C",
"hgvs_p": null,
"transcript": "XM_024446622.2",
"protein_id": "XP_024302390.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_024446622.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-144+326T>C",
"hgvs_p": null,
"transcript": "XM_047419687.1",
"protein_id": "XP_047275643.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 236,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-141+295T>C",
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"transcript": "XM_047419688.1",
"protein_id": "XP_047275644.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-141+326T>C",
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"transcript": "XM_047419689.1",
"protein_id": "XP_047275645.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-85+295T>C",
"hgvs_p": null,
"transcript": "XM_005250088.6",
"protein_id": "XP_005250145.1",
"transcript_support_level": null,
"aa_start": null,
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"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": "XM_005250088.6"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM225B",
"gene_hgnc_id": 53075,
"hgvs_c": "c.-85+303T>C",
"hgvs_p": null,
"transcript": "XM_011515699.3",
"protein_id": "XP_011514001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515699.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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{
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}
],
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}