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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: 12-113130992-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113130992&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 113130992,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000548055.2",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001301202.2",
"protein_id": "NP_001288131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": -4,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": "ENST00000548055.2",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "ENST00000548055.2",
"protein_id": "ENSP00000448510.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": -4,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": "NM_001301202.2",
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "ENST00000546530.5",
"protein_id": "ENSP00000450244.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3817,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "ENST00000261729.9",
"protein_id": "ENSP00000261729.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3382,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "ENST00000446861.7",
"protein_id": "ENSP00000395920.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "n.108-51T>C",
"hgvs_p": null,
"transcript": "ENST00000546727.5",
"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": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "n.354-51T>C",
"hgvs_p": null,
"transcript": "ENST00000548972.5",
"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": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "n.342-51T>C",
"hgvs_p": null,
"transcript": "ENST00000551051.5",
"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": 2733,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001193520.2",
"protein_id": "NP_001180449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3373,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001394081.1",
"protein_id": "NP_001381010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3371,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001394082.1",
"protein_id": "NP_001381011.1",
"transcript_support_level": null,
"aa_start": null,
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"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,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001394083.1",
"protein_id": "NP_001381012.1",
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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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001394084.1",
"protein_id": "NP_001381013.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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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"intron_rank": 1,
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"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001394085.1",
"protein_id": "NP_001381014.1",
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},
{
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],
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"gene_symbol": "RASAL1",
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"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_004658.3",
"protein_id": "NP_004649.2",
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"cdna_start": null,
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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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001394086.1",
"protein_id": "NP_001381015.1",
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},
{
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],
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"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001193521.3",
"protein_id": "NP_001180450.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "NM_001394087.1",
"protein_id": "NP_001381016.1",
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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": 17,
"intron_rank": 1,
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"gene_symbol": "RASAL1",
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"hgvs_c": "c.65+4406T>C",
"hgvs_p": null,
"transcript": "NM_001394088.1",
"protein_id": "NP_001381017.1",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "RASAL1",
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"hgvs_c": "c.65+4406T>C",
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"transcript": "NM_001394089.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "RASAL1",
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"hgvs_c": "n.382-51T>C",
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"transcript": "ENST00000418411.6",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "n.357+4406T>C",
"hgvs_p": null,
"transcript": "ENST00000547810.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.66-51T>C",
"hgvs_p": null,
"transcript": "XM_005253950.5",
"protein_id": "XP_005254007.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 806,
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"cdna_start": null,
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"mane_select": null,
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},
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}