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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: 5-126483496-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=126483496&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 126483496,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001146319.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Val257Leu",
"transcript": "NM_023927.4",
"protein_id": "NP_076416.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 432,
"cds_start": 769,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": "ENST00000285689.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023927.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Val257Leu",
"transcript": "ENST00000285689.8",
"protein_id": "ENSP00000285689.3",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 432,
"cds_start": 769,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": "NM_023927.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285689.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Val257Leu",
"transcript": "ENST00000921003.1",
"protein_id": "ENSP00000591062.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 456,
"cds_start": 769,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921003.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Val272Leu",
"transcript": "NM_001146319.3",
"protein_id": "NP_001139791.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 447,
"cds_start": 814,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146319.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Val272Leu",
"transcript": "ENST00000513040.5",
"protein_id": "ENSP00000426120.1",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 447,
"cds_start": 814,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513040.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Val265Leu",
"transcript": "NM_001349544.2",
"protein_id": "NP_001336473.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 441,
"cds_start": 793,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349544.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Val265Leu",
"transcript": "NM_001146321.3",
"protein_id": "NP_001139793.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 440,
"cds_start": 793,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146321.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Val265Leu",
"transcript": "ENST00000542322.5",
"protein_id": "ENSP00000441876.1",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 440,
"cds_start": 793,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542322.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Val257Leu",
"transcript": "NM_001349541.2",
"protein_id": "NP_001336470.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 433,
"cds_start": 769,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349541.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Val257Leu",
"transcript": "ENST00000880471.1",
"protein_id": "ENSP00000550530.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 433,
"cds_start": 769,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880471.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.721G>C",
"hgvs_p": "p.Val241Leu",
"transcript": "NM_001349542.2",
"protein_id": "NP_001336471.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 417,
"cds_start": 721,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349542.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Val257Leu",
"transcript": "ENST00000971359.1",
"protein_id": "ENSP00000641418.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 417,
"cds_start": 769,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971359.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.721G>C",
"hgvs_p": "p.Val241Leu",
"transcript": "NM_001146322.3",
"protein_id": "NP_001139794.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 416,
"cds_start": 721,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146322.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.721G>C",
"hgvs_p": "p.Val241Leu",
"transcript": "ENST00000511134.1",
"protein_id": "ENSP00000426088.1",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 416,
"cds_start": 721,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511134.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Val234Leu",
"transcript": "ENST00000515200.5",
"protein_id": "ENSP00000426143.1",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 410,
"cds_start": 700,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515200.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.673G>C",
"hgvs_p": "p.Val225Leu",
"transcript": "ENST00000880472.1",
"protein_id": "ENSP00000550531.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 400,
"cds_start": 673,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880472.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Val202Leu",
"transcript": "ENST00000971358.1",
"protein_id": "ENSP00000641417.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 377,
"cds_start": 604,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971358.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Val200Leu",
"transcript": "ENST00000880473.1",
"protein_id": "ENSP00000550532.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 375,
"cds_start": 598,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880473.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_001349543.2",
"protein_id": "NP_001336472.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 329,
"cds_start": 457,
"cds_end": null,
"cds_length": 990,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349543.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_001146320.3",
"protein_id": "NP_001139792.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 328,
"cds_start": 457,
"cds_end": null,
"cds_length": 987,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146320.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000544396.5",
"protein_id": "ENSP00000444049.1",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 328,
"cds_start": 457,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544396.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.442G>C",
"hgvs_p": "p.Val148Leu",
"transcript": "ENST00000502348.5",
"protein_id": "ENSP00000427596.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 323,
"cds_start": 442,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.48,
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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{
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],
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}