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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: 5-162149127-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=162149127&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 162149127,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000639213.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr",
"transcript": "NM_198904.4",
"protein_id": "NP_944494.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 475,
"cds_start": 942,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "ENST00000639213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr",
"transcript": "ENST00000639213.2",
"protein_id": "ENSP00000491909.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 475,
"cds_start": 942,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "NM_198904.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1062A>G",
"hgvs_p": "p.Thr354Thr",
"transcript": "ENST00000414552.6",
"protein_id": "ENSP00000410732.2",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 515,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr",
"transcript": "ENST00000639111.2",
"protein_id": "ENSP00000492125.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 467,
"cds_start": 942,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 11548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1062A>G",
"hgvs_p": "p.Thr354Thr",
"transcript": "NM_198903.2",
"protein_id": "NP_944493.2",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 515,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1062A>G",
"hgvs_p": "p.Thr354Thr",
"transcript": "NM_001375343.1",
"protein_id": "NP_001362272.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 507,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1062A>G",
"hgvs_p": "p.Thr354Thr",
"transcript": "ENST00000361925.9",
"protein_id": "ENSP00000354651.5",
"transcript_support_level": 3,
"aa_start": 354,
"aa_end": null,
"aa_length": 507,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr",
"transcript": "ENST00000641017.1",
"protein_id": "ENSP00000493461.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 498,
"cds_start": 942,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.981A>G",
"hgvs_p": "p.Thr327Thr",
"transcript": "NM_001375344.1",
"protein_id": "NP_001362273.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 488,
"cds_start": 981,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr",
"transcript": "ENST00000356592.8",
"protein_id": "ENSP00000349000.4",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 475,
"cds_start": 942,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.939A>G",
"hgvs_p": "p.Thr313Thr",
"transcript": "NM_001375341.1",
"protein_id": "NP_001362270.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 474,
"cds_start": 939,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.933A>G",
"hgvs_p": "p.Thr311Thr",
"transcript": "NM_001375339.1",
"protein_id": "NP_001362268.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 472,
"cds_start": 933,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr",
"transcript": "NM_000816.3",
"protein_id": "NP_000807.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 467,
"cds_start": 942,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.939A>G",
"hgvs_p": "p.Thr313Thr",
"transcript": "NM_001375342.1",
"protein_id": "NP_001362271.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 466,
"cds_start": 939,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.876A>G",
"hgvs_p": "p.Thr292Thr",
"transcript": "NM_001375346.1",
"protein_id": "NP_001362275.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 453,
"cds_start": 876,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.876A>G",
"hgvs_p": "p.Thr292Thr",
"transcript": "ENST00000639683.1",
"protein_id": "ENSP00000492581.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 453,
"cds_start": 876,
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"cds_length": 1362,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.855A>G",
"hgvs_p": "p.Thr285Thr",
"transcript": "NM_001375347.1",
"protein_id": "NP_001362276.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 446,
"cds_start": 855,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.855A>G",
"hgvs_p": "p.Thr285Thr",
"transcript": "ENST00000640985.1",
"protein_id": "ENSP00000492293.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 446,
"cds_start": 855,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.876A>G",
"hgvs_p": "p.Thr292Thr",
"transcript": "NM_001375345.1",
"protein_id": "NP_001362274.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 445,
"cds_start": 876,
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"cds_length": 1338,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.876A>G",
"hgvs_p": "p.Thr292Thr",
"transcript": "ENST00000639975.1",
"protein_id": "ENSP00000492096.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 445,
"cds_start": 876,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr",
"transcript": "ENST00000638772.1",
"protein_id": "ENSP00000491557.1",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 385,
"cds_start": 942,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 7669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr",
"transcript": "ENST00000639384.1",
"protein_id": "ENSP00000491240.1",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 385,
"cds_start": 942,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 5360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
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"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000639213.2",
"gene_symbol": "GABRG2",
"hgnc_id": 4087,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Thr314Thr"
}
],
"clinvar_disease": " 2, 8, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, familial,EPILEPSY,Febrile seizures,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not specified|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;Febrile seizures, familial, 8|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}