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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: 12-113104005-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113104005&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 113104005,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001193520.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "NM_001301202.2",
"protein_id": "NP_001288131.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000548055.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301202.2"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "ENST00000548055.2",
"protein_id": "ENSP00000448510.1",
"transcript_support_level": 1,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001301202.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548055.2"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2048G>C",
"hgvs_p": "p.Cys683Ser",
"transcript": "ENST00000546530.5",
"protein_id": "ENSP00000450244.1",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 806,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546530.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2042G>C",
"hgvs_p": "p.Cys681Ser",
"transcript": "ENST00000261729.9",
"protein_id": "ENSP00000261729.5",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 804,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261729.9"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.1958G>C",
"hgvs_p": "p.Cys653Ser",
"transcript": "ENST00000446861.7",
"protein_id": "ENSP00000395920.3",
"transcript_support_level": 1,
"aa_start": 653,
"aa_end": null,
"aa_length": 776,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446861.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "n.2319G>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": 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": "ENST00000551051.5"
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "n.2331+1709G>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": 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": "ENST00000546727.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2048G>C",
"hgvs_p": "p.Cys683Ser",
"transcript": "NM_001193520.2",
"protein_id": "NP_001180449.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 806,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193520.2"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2048G>C",
"hgvs_p": "p.Cys683Ser",
"transcript": "NM_001394081.1",
"protein_id": "NP_001381010.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 806,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394081.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2048G>C",
"hgvs_p": "p.Cys683Ser",
"transcript": "ENST00000888554.1",
"protein_id": "ENSP00000558613.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 806,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888554.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2048G>C",
"hgvs_p": "p.Cys683Ser",
"transcript": "ENST00000888555.1",
"protein_id": "ENSP00000558614.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 806,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888555.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "NM_001394082.1",
"protein_id": "NP_001381011.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394082.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "NM_001394083.1",
"protein_id": "NP_001381012.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394083.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "NM_001394084.1",
"protein_id": "NP_001381013.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394084.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "ENST00000888551.1",
"protein_id": "ENSP00000558610.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888551.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "ENST00000888552.1",
"protein_id": "ENSP00000558611.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888552.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "ENST00000888553.1",
"protein_id": "ENSP00000558612.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888553.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2045G>C",
"hgvs_p": "p.Cys682Ser",
"transcript": "ENST00000888558.1",
"protein_id": "ENSP00000558617.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 805,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888558.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2042G>C",
"hgvs_p": "p.Cys681Ser",
"transcript": "NM_001394085.1",
"protein_id": "NP_001381014.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 804,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394085.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2042G>C",
"hgvs_p": "p.Cys681Ser",
"transcript": "NM_004658.3",
"protein_id": "NP_004649.2",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 804,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004658.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.2042G>C",
"hgvs_p": "p.Cys681Ser",
"transcript": "ENST00000888550.1",
"protein_id": "ENSP00000558609.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 804,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888550.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASAL1",
"gene_hgnc_id": 9873,
"hgvs_c": "c.1961G>C",
"hgvs_p": "p.Cys654Ser",
"transcript": "ENST00000888557.1",
"protein_id": "ENSP00000558616.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 794,
"cds_start": 1961,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}