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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: 5-16477663-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=16477663&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 16477663,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000306320.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.999T>C",
"hgvs_p": "p.Asp333Asp",
"transcript": "NM_001034850.3",
"protein_id": "NP_001030022.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 497,
"cds_start": 999,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "ENST00000306320.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.999T>C",
"hgvs_p": "p.Asp333Asp",
"transcript": "ENST00000306320.10",
"protein_id": "ENSP00000304642.9",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 497,
"cds_start": 999,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "NM_001034850.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Asp192Asp",
"transcript": "ENST00000399793.6",
"protein_id": "ENSP00000382691.2",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 356,
"cds_start": 576,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.474T>C",
"hgvs_p": null,
"transcript": "ENST00000510362.6",
"protein_id": "ENSP00000425089.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.-70T>C",
"hgvs_p": null,
"transcript": "ENST00000684456.1",
"protein_id": "ENSP00000508060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": -4,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1155T>C",
"hgvs_p": "p.Asp385Asp",
"transcript": "ENST00000682229.1",
"protein_id": "ENSP00000507342.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 549,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.996T>C",
"hgvs_p": "p.Asp332Asp",
"transcript": "ENST00000682564.1",
"protein_id": "ENSP00000508099.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 496,
"cds_start": 996,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.861T>C",
"hgvs_p": "p.Asp287Asp",
"transcript": "ENST00000684521.1",
"protein_id": "ENSP00000507521.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 451,
"cds_start": 861,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.696T>C",
"hgvs_p": "p.Asp232Asp",
"transcript": "ENST00000682142.1",
"protein_id": "ENSP00000506804.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 396,
"cds_start": 696,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Asp192Asp",
"transcript": "NM_019000.5",
"protein_id": "NP_061873.2",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 356,
"cds_start": 576,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.474T>C",
"hgvs_p": "p.Asp158Asp",
"transcript": "ENST00000682628.1",
"protein_id": "ENSP00000507536.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 322,
"cds_start": 474,
"cds_end": null,
"cds_length": 969,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.474T>C",
"hgvs_p": "p.Asp158Asp",
"transcript": "ENST00000683414.1",
"protein_id": "ENSP00000508335.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 322,
"cds_start": 474,
"cds_end": null,
"cds_length": 969,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.474T>C",
"hgvs_p": "p.Asp158Asp",
"transcript": "ENST00000683539.1",
"protein_id": "ENSP00000507466.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 322,
"cds_start": 474,
"cds_end": null,
"cds_length": 969,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.1119T>C",
"hgvs_p": "p.Asp373Asp",
"transcript": "XM_011514053.4",
"protein_id": "XP_011512355.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 537,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.696T>C",
"hgvs_p": "p.Asp232Asp",
"transcript": "XM_011514054.3",
"protein_id": "XP_011512356.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 396,
"cds_start": 696,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "c.600T>C",
"hgvs_p": "p.Asp200Asp",
"transcript": "XM_011514055.4",
"protein_id": "XP_011512357.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 364,
"cds_start": 600,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.647T>C",
"hgvs_p": null,
"transcript": "ENST00000509977.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.1773T>C",
"hgvs_p": null,
"transcript": "ENST00000682982.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.5543T>C",
"hgvs_p": null,
"transcript": "ENST00000683045.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*245T>C",
"hgvs_p": null,
"transcript": "ENST00000683130.1",
"protein_id": "ENSP00000507709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.1498T>C",
"hgvs_p": null,
"transcript": "ENST00000683169.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RETREG1",
"gene_hgnc_id": 25964,
"hgvs_c": "n.*298T>C",
"hgvs_p": null,
"transcript": "ENST00000683527.1",
"protein_id": "ENSP00000507253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
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{
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{
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{
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],
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"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.544,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000246110221632521,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS1",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000306320.10",
"gene_symbol": "RETREG1",
"hgnc_id": 25964,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.999T>C",
"hgvs_p": "p.Asp333Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}