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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: 12-122930094-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122930094&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122930094,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_019625.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.His706His",
"transcript": "NM_019625.4",
"protein_id": "NP_062571.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 766,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280560.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019625.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.His706His",
"transcript": "ENST00000280560.13",
"protein_id": "ENSP00000280560.8",
"transcript_support_level": 1,
"aa_start": 706,
"aa_end": null,
"aa_length": 766,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019625.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280560.13"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.His706His",
"transcript": "ENST00000542678.5",
"protein_id": "ENSP00000440288.1",
"transcript_support_level": 1,
"aa_start": 706,
"aa_end": null,
"aa_length": 766,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542678.5"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2040+2098C>T",
"hgvs_p": null,
"transcript": "ENST00000442833.6",
"protein_id": "ENSP00000456375.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442833.6"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2040+2098C>T",
"hgvs_p": null,
"transcript": "ENST00000344275.11",
"protein_id": "ENSP00000456813.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344275.11"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.His706His",
"transcript": "NM_001437843.1",
"protein_id": "NP_001424772.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 766,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437843.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.His706His",
"transcript": "ENST00000392439.7",
"protein_id": "ENSP00000376234.3",
"transcript_support_level": 5,
"aa_start": 706,
"aa_end": null,
"aa_length": 766,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392439.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.His706His",
"transcript": "ENST00000873039.1",
"protein_id": "ENSP00000543098.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 766,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873039.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1989C>T",
"hgvs_p": "p.His663His",
"transcript": "NM_001438398.1",
"protein_id": "NP_001425327.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 723,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438398.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1989C>T",
"hgvs_p": "p.His663His",
"transcript": "NM_019624.4",
"protein_id": "NP_062570.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 723,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019624.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1989C>T",
"hgvs_p": "p.His663His",
"transcript": "ENST00000346530.9",
"protein_id": "ENSP00000280559.7",
"transcript_support_level": 5,
"aa_start": 663,
"aa_end": null,
"aa_length": 723,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346530.9"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.His643His",
"transcript": "NM_001243013.2",
"protein_id": "NP_001229942.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 703,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243013.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.His643His",
"transcript": "ENST00000540285.5",
"protein_id": "ENSP00000441734.1",
"transcript_support_level": 2,
"aa_start": 643,
"aa_end": null,
"aa_length": 703,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540285.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.His643His",
"transcript": "ENST00000873038.1",
"protein_id": "ENSP00000543097.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 703,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873038.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1878C>T",
"hgvs_p": "p.His626His",
"transcript": "ENST00000947336.1",
"protein_id": "ENSP00000617395.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 686,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947336.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1800C>T",
"hgvs_p": "p.His600His",
"transcript": "ENST00000923041.1",
"protein_id": "ENSP00000593100.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 660,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923041.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1755C>T",
"hgvs_p": "p.His585His",
"transcript": "ENST00000923040.1",
"protein_id": "ENSP00000593099.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 645,
"cds_start": 1755,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923040.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1503C>T",
"hgvs_p": "p.His501His",
"transcript": "ENST00000873040.1",
"protein_id": "ENSP00000543099.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 561,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873040.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.750C>T",
"hgvs_p": "p.His250His",
"transcript": "ENST00000546289.5",
"protein_id": "ENSP00000442281.1",
"transcript_support_level": 3,
"aa_start": 250,
"aa_end": null,
"aa_length": 276,
"cds_start": 750,
"cds_end": null,
"cds_length": 833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546289.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.His706His",
"transcript": "XM_011538096.3",
"protein_id": "XP_011536398.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 766,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538096.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.His706His",
"transcript": "XM_017019103.2",
"protein_id": "XP_016874592.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 766,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019103.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1464C>T",
"hgvs_p": "p.His488His",
"transcript": "XM_011538098.3",
"protein_id": "XP_011536400.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 548,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538098.3"
},
{
"aa_ref": "H",
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{
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],
"gene_symbol": "ABCB9",
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"dbsnp": "rs765074033",
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"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.837,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 2,
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_019625.4",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}