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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: 12-122932206-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122932206&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122932206,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019625.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "NM_019625.4",
"protein_id": "NP_062571.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 766,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000280560.13",
"protein_id": "ENSP00000280560.8",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 766,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000542678.5",
"protein_id": "ENSP00000440288.1",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 766,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000442833.6",
"protein_id": "ENSP00000456375.1",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 683,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000344275.11",
"protein_id": "ENSP00000456813.1",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 681,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "NM_001437843.1",
"protein_id": "NP_001424772.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 766,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000392439.7",
"protein_id": "ENSP00000376234.3",
"transcript_support_level": 5,
"aa_start": 676,
"aa_end": null,
"aa_length": 766,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "ENST00000873039.1",
"protein_id": "ENSP00000543098.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 766,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Glu633Lys",
"transcript": "NM_001438398.1",
"protein_id": "NP_001425327.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 723,
"cds_start": 1897,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Glu633Lys",
"transcript": "NM_019624.4",
"protein_id": "NP_062570.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 723,
"cds_start": 1897,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Glu633Lys",
"transcript": "ENST00000346530.9",
"protein_id": "ENSP00000280559.7",
"transcript_support_level": 5,
"aa_start": 633,
"aa_end": null,
"aa_length": 723,
"cds_start": 1897,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Glu613Lys",
"transcript": "NM_001243013.2",
"protein_id": "NP_001229942.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 703,
"cds_start": 1837,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Glu613Lys",
"transcript": "ENST00000540285.5",
"protein_id": "ENSP00000441734.1",
"transcript_support_level": 2,
"aa_start": 613,
"aa_end": null,
"aa_length": 703,
"cds_start": 1837,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Glu613Lys",
"transcript": "ENST00000873038.1",
"protein_id": "ENSP00000543097.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 703,
"cds_start": 1837,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Glu596Lys",
"transcript": "ENST00000947336.1",
"protein_id": "ENSP00000617395.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 686,
"cds_start": 1786,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "NM_203444.4",
"protein_id": "NP_982269.2",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 683,
"cds_start": 2026,
"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": "NM_203444.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "NM_001243014.2",
"protein_id": "NP_001229943.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 681,
"cds_start": 2026,
"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": "NM_001243014.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Glu570Lys",
"transcript": "ENST00000923041.1",
"protein_id": "ENSP00000593100.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 660,
"cds_start": 1708,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "ENST00000923040.1",
"protein_id": "ENSP00000593099.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 645,
"cds_start": 1663,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Glu220Lys",
"transcript": "ENST00000546289.5",
"protein_id": "ENSP00000442281.1",
"transcript_support_level": 3,
"aa_start": 220,
"aa_end": null,
"aa_length": 276,
"cds_start": 658,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "XM_011538096.3",
"protein_id": "XP_011536398.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 766,
"cds_start": 2026,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Glu676Lys",
"transcript": "XM_017019103.2",
"protein_id": "XP_016874592.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 766,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019625.4",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}