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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: 2-218290058-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218290058&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218290058,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000273077.9",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.236+18509G>C",
"hgvs_p": null,
"transcript": "NM_015488.5",
"protein_id": "NP_056303.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": -4,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": "ENST00000273077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.236+18509G>C",
"hgvs_p": null,
"transcript": "ENST00000273077.9",
"protein_id": "ENSP00000273077.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": -4,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": "NM_015488.5",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-41+2408C>G",
"hgvs_p": null,
"transcript": "NM_022152.6",
"protein_id": "NP_071435.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": "ENST00000258412.8",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-41+2408C>G",
"hgvs_p": null,
"transcript": "ENST00000258412.8",
"protein_id": "ENSP00000258412.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": "NM_022152.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-133C>G",
"hgvs_p": null,
"transcript": "ENST00000429501.5",
"protein_id": "ENSP00000399987.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.353+17372G>C",
"hgvs_p": null,
"transcript": "ENST00000685415.1",
"protein_id": "ENSP00000510415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.236+18509G>C",
"hgvs_p": null,
"transcript": "ENST00000436005.3",
"protein_id": "ENSP00000414400.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.236+18509G>C",
"hgvs_p": null,
"transcript": "ENST00000689816.1",
"protein_id": "ENSP00000508450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.236+18509G>C",
"hgvs_p": null,
"transcript": "ENST00000688179.1",
"protein_id": "ENSP00000508635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.236+18509G>C",
"hgvs_p": null,
"transcript": "ENST00000687736.1",
"protein_id": "ENSP00000509627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2753,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-139+2408C>G",
"hgvs_p": null,
"transcript": "NM_001321433.2",
"protein_id": "NP_001308362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
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"cds_length": 936,
"cdna_start": null,
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"cdna_length": 2390,
"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,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-217+2412C>G",
"hgvs_p": null,
"transcript": "NM_001321435.2",
"protein_id": "NP_001308364.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 311,
"cds_start": -4,
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"cdna_start": null,
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"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-217+2408C>G",
"hgvs_p": null,
"transcript": "NM_001321436.2",
"protein_id": "NP_001308365.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.236+18509G>C",
"hgvs_p": null,
"transcript": "ENST00000691220.1",
"protein_id": "ENSP00000509580.1",
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},
{
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],
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"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-309+2408C>G",
"hgvs_p": null,
"transcript": "NM_001321438.2",
"protein_id": "NP_001308367.1",
"transcript_support_level": null,
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"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,
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"intron_rank": 1,
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"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-321+2408C>G",
"hgvs_p": null,
"transcript": "ENST00000445635.5",
"protein_id": "ENSP00000401491.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TMBIM1",
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"hgvs_c": "c.-217+2408C>G",
"hgvs_p": null,
"transcript": "ENST00000440422.5",
"protein_id": "ENSP00000412518.1",
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"aa_start": null,
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"biotype": null,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-139+2408C>G",
"hgvs_p": null,
"transcript": "ENST00000444183.5",
"protein_id": "ENSP00000410136.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "TMBIM1",
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"hgvs_c": "c.-213+2408C>G",
"hgvs_p": null,
"transcript": "ENST00000453281.5",
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},
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],
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"gene_symbol": "TMBIM1",
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"hgvs_c": "c.-315+2408C>G",
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"transcript": "ENST00000434015.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMBIM1",
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"hgvs_c": "c.-163+2408C>G",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "c.-269+2408C>G",
"hgvs_p": null,
"transcript": "ENST00000420341.1",
"protein_id": "ENSP00000413624.1",
"transcript_support_level": 4,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMBIM1",
"gene_hgnc_id": 23410,
"hgvs_c": "n.-41+2408C>G",
"hgvs_p": null,
"transcript": "ENST00000437694.6",
"protein_id": "ENSP00000404709.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 992,
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}