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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: 2-27454630-CC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27454630&ref=CC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IFT172",
"hgnc_id": 30391,
"hgvs_c": "c.3401_3402delGGinsTC",
"hgvs_p": "p.Arg1134Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015662.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1749,
"aa_ref": "R",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 5250,
"cds_start": 3401,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015662.3",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3401_3402delGGinsTC",
"hgvs_p": "p.Arg1134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260570.8",
"protein_coding": true,
"protein_id": "NP_056477.1",
"strand": false,
"transcript": "NM_015662.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1749,
"aa_ref": "R",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 5250,
"cds_start": 3401,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000260570.8",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3401_3402delGGinsTC",
"hgvs_p": "p.Arg1134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015662.3",
"protein_coding": true,
"protein_id": "ENSP00000260570.3",
"strand": false,
"transcript": "ENST00000260570.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "R",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5500,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 5361,
"cds_start": 3401,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945698.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3401_3402delGGinsTC",
"hgvs_p": "p.Arg1134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615757.1",
"strand": false,
"transcript": "ENST00000945698.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1727,
"aa_ref": "R",
"aa_start": 1112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5329,
"cdna_start": 3426,
"cds_end": null,
"cds_length": 5184,
"cds_start": 3335,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410739.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3335_3336delGGinsTC",
"hgvs_p": "p.Arg1112Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397668.1",
"strand": false,
"transcript": "NM_001410739.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1727,
"aa_ref": "R",
"aa_start": 1112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5340,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 5184,
"cds_start": 3335,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675690.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3335_3336delGGinsTC",
"hgvs_p": "p.Arg1112Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502283.1",
"strand": false,
"transcript": "ENST00000675690.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1716,
"aa_ref": "R",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5274,
"cdna_start": 3470,
"cds_end": null,
"cds_length": 5151,
"cds_start": 3401,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923256.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3401_3402delGGinsTC",
"hgvs_p": "p.Arg1134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593315.1",
"strand": false,
"transcript": "ENST00000923256.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1713,
"aa_ref": "R",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5380,
"cdna_start": 3477,
"cds_end": null,
"cds_length": 5142,
"cds_start": 3293,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872012.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3293_3294delGGinsTC",
"hgvs_p": "p.Arg1098Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542071.1",
"strand": false,
"transcript": "ENST00000872012.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1706,
"aa_ref": "R",
"aa_start": 1112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5322,
"cdna_start": 3488,
"cds_end": null,
"cds_length": 5121,
"cds_start": 3335,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945697.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3335_3336delGGinsTC",
"hgvs_p": "p.Arg1112Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615756.1",
"strand": false,
"transcript": "ENST00000945697.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 195,
"aa_ref": "R",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": 7,
"cds_end": null,
"cds_length": 588,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443889.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.5_6delGGinsTC",
"hgvs_p": "p.Arg2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404082.1",
"strand": false,
"transcript": "ENST00000443889.1",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1728,
"aa_ref": "R",
"aa_start": 1113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5479,
"cdna_start": 3576,
"cds_end": null,
"cds_length": 5187,
"cds_start": 3338,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006711986.4",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3338_3339delGGinsTC",
"hgvs_p": "p.Arg1113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712049.1",
"strand": false,
"transcript": "XM_006711986.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1716,
"aa_ref": "R",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 5151,
"cds_start": 3401,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006711987.2",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3401_3402delGGinsTC",
"hgvs_p": "p.Arg1134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712050.1",
"strand": false,
"transcript": "XM_006711987.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1694,
"aa_ref": "R",
"aa_start": 1112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5230,
"cdna_start": 3426,
"cds_end": null,
"cds_length": 5085,
"cds_start": 3335,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443900.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3335_3336delGGinsTC",
"hgvs_p": "p.Arg1112Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299856.1",
"strand": false,
"transcript": "XM_047443900.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1522,
"aa_ref": "R",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5108,
"cdna_start": 3205,
"cds_end": null,
"cds_length": 4569,
"cds_start": 2720,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443901.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.2720_2721delGGinsTC",
"hgvs_p": "p.Arg907Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299857.1",
"strand": false,
"transcript": "XM_047443901.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1522,
"aa_ref": "R",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 4569,
"cds_start": 2720,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443902.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.2720_2721delGGinsTC",
"hgvs_p": "p.Arg907Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299858.1",
"strand": false,
"transcript": "XM_047443902.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1327,
"aa_ref": "R",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 3984,
"cds_start": 3401,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011532758.2",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3401_3402delGGinsTC",
"hgvs_p": "p.Arg1134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531060.1",
"strand": false,
"transcript": "XM_011532758.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "R",
"aa_start": 1112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 3426,
"cds_end": null,
"cds_length": 3918,
"cds_start": 3335,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443903.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.3335_3336delGGinsTC",
"hgvs_p": "p.Arg1112Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299859.1",
"strand": false,
"transcript": "XM_047443903.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "R",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 3690,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011532759.3",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.1841_1842delGGinsTC",
"hgvs_p": "p.Arg614Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531061.1",
"strand": false,
"transcript": "XM_011532759.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3567,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 3387,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443904.1",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.1538_1539delGGinsTC",
"hgvs_p": "p.Arg513Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299860.1",
"strand": false,
"transcript": "XM_047443904.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 3315,
"cds_start": 1466,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011532760.3",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "c.1466_1467delGGinsTC",
"hgvs_p": "p.Arg489Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531062.1",
"strand": false,
"transcript": "XM_011532760.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5565,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000507184.5",
"gene_hgnc_id": 30391,
"gene_symbol": "IFT172",
"hgvs_c": "n.3682_3683delGGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000507184.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000674701.1",
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