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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: 2-96707763-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96707763&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96707763,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001142292.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Leu285Leu",
"transcript": "NM_030805.4",
"protein_id": "NP_110432.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 348,
"cds_start": 855,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": "ENST00000264963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030805.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000264963.9",
"protein_id": "ENSP00000264963.4",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 348,
"cds_start": 855,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": "NM_030805.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264963.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Leu296Leu",
"transcript": "ENST00000377079.8",
"protein_id": "ENSP00000366280.4",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 359,
"cds_start": 888,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377079.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Leu298Leu",
"transcript": "ENST00000970314.1",
"protein_id": "ENSP00000640373.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 361,
"cds_start": 894,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970314.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Leu296Leu",
"transcript": "NM_001142292.2",
"protein_id": "NP_001135764.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 359,
"cds_start": 888,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142292.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.861C>T",
"hgvs_p": "p.Leu287Leu",
"transcript": "ENST00000893541.1",
"protein_id": "ENSP00000563600.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 350,
"cds_start": 861,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893541.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Leu284Leu",
"transcript": "ENST00000970312.1",
"protein_id": "ENSP00000640371.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 347,
"cds_start": 852,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970312.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Leu296Leu",
"transcript": "ENST00000970313.1",
"protein_id": "ENSP00000640372.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 331,
"cds_start": 888,
"cds_end": null,
"cds_length": 996,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970313.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.Leu261Leu",
"transcript": "ENST00000970315.1",
"protein_id": "ENSP00000640374.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 324,
"cds_start": 783,
"cds_end": null,
"cds_length": 975,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970315.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Leu285Leu",
"transcript": "ENST00000920371.1",
"protein_id": "ENSP00000590430.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 320,
"cds_start": 855,
"cds_end": null,
"cds_length": 963,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920371.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Leu250Leu",
"transcript": "ENST00000893540.1",
"protein_id": "ENSP00000563599.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 313,
"cds_start": 750,
"cds_end": null,
"cds_length": 942,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893540.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Leu231Leu",
"transcript": "ENST00000893542.1",
"protein_id": "ENSP00000563601.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 294,
"cds_start": 693,
"cds_end": null,
"cds_length": 885,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893542.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "NM_001322347.2",
"protein_id": "NP_001309276.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 221,
"cds_start": 474,
"cds_end": null,
"cds_length": 666,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322347.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Leu158Leu",
"transcript": "NM_001322352.2",
"protein_id": "NP_001309281.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 221,
"cds_start": 474,
"cds_end": null,
"cds_length": 666,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322352.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Leu151Leu",
"transcript": "NM_001322346.2",
"protein_id": "NP_001309275.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 214,
"cds_start": 453,
"cds_end": null,
"cds_length": 645,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322346.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Leu151Leu",
"transcript": "NM_001322354.2",
"protein_id": "NP_001309283.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 214,
"cds_start": 453,
"cds_end": null,
"cds_length": 645,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322354.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Leu147Leu",
"transcript": "NM_001322350.2",
"protein_id": "NP_001309279.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 210,
"cds_start": 441,
"cds_end": null,
"cds_length": 633,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322350.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Leu140Leu",
"transcript": "NM_001322351.2",
"protein_id": "NP_001309280.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 203,
"cds_start": 420,
"cds_end": null,
"cds_length": 612,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322351.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Leu140Leu",
"transcript": "NM_001322355.2",
"protein_id": "NP_001309284.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 203,
"cds_start": 420,
"cds_end": null,
"cds_length": 612,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322355.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Leu140Leu",
"transcript": "NM_001322356.2",
"protein_id": "NP_001309285.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 203,
"cds_start": 420,
"cds_end": null,
"cds_length": 612,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322356.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Leu147Leu",
"transcript": "XM_047445946.1",
"protein_id": "XP_047301902.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 210,
"cds_start": 441,
"cds_end": null,
"cds_length": 633,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "n.*612C>T",
"hgvs_p": null,
"transcript": "ENST00000434524.5",
"protein_id": "ENSP00000413533.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
"score": -3,
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"pathogenic_score": 2,
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}