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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: 17-46935139-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46935139&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46935139,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000640051.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "NM_004287.5",
"protein_id": "NP_004278.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 447,
"cds_end": null,
"cds_length": 639,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": "ENST00000640051.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "ENST00000640051.2",
"protein_id": "ENSP00000492751.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 212,
"cds_start": 447,
"cds_end": null,
"cds_length": 639,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": "NM_004287.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "ENST00000225567.9",
"protein_id": "ENSP00000225567.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 213,
"cds_start": 447,
"cds_end": null,
"cds_length": 642,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "ENST00000640621.1",
"protein_id": "ENSP00000492830.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 195,
"cds_start": 447,
"cds_end": null,
"cds_length": 588,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262633",
"gene_hgnc_id": null,
"hgvs_c": "n.447T>C",
"hgvs_p": null,
"transcript": "ENST00000571841.1",
"protein_id": "ENSP00000461460.1",
"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": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "NM_001321133.2",
"protein_id": "NP_001308062.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 257,
"cds_start": 447,
"cds_end": null,
"cds_length": 774,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "ENST00000573224.2",
"protein_id": "ENSP00000461784.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 257,
"cds_start": 447,
"cds_end": null,
"cds_length": 774,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "NM_054022.4",
"protein_id": "NP_473363.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 213,
"cds_start": 447,
"cds_end": null,
"cds_length": 642,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.384T>C",
"hgvs_p": "p.Asp128Asp",
"transcript": "ENST00000640723.1",
"protein_id": "ENSP00000492206.1",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 213,
"cds_start": 384,
"cds_end": null,
"cds_length": 642,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.444T>C",
"hgvs_p": "p.Asp148Asp",
"transcript": "NM_001353114.2",
"protein_id": "NP_001340043.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 211,
"cds_start": 444,
"cds_end": null,
"cds_length": 636,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.444T>C",
"hgvs_p": "p.Asp148Asp",
"transcript": "ENST00000638838.1",
"protein_id": "ENSP00000492524.1",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 211,
"cds_start": 444,
"cds_end": null,
"cds_length": 636,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.441T>C",
"hgvs_p": "p.Asp147Asp",
"transcript": "ENST00000576910.7",
"protein_id": "ENSP00000461673.2",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 210,
"cds_start": 441,
"cds_end": null,
"cds_length": 633,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.558T>C",
"hgvs_p": "p.Asp186Asp",
"transcript": "ENST00000570879.2",
"protein_id": "ENSP00000458154.2",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 196,
"cds_start": 558,
"cds_end": null,
"cds_length": 592,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "ENST00000623037.2",
"protein_id": "ENSP00000492669.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 196,
"cds_start": 447,
"cds_end": null,
"cds_length": 591,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.447T>C",
"hgvs_p": "p.Asp149Asp",
"transcript": "NM_001012511.3",
"protein_id": "NP_001012529.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 195,
"cds_start": 447,
"cds_end": null,
"cds_length": 588,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Asp131Asp",
"transcript": "NM_001363851.2",
"protein_id": "NP_001350780.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 194,
"cds_start": 393,
"cds_end": null,
"cds_length": 585,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.444T>C",
"hgvs_p": "p.Asp148Asp",
"transcript": "ENST00000415811.7",
"protein_id": "ENSP00000394559.3",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 194,
"cds_start": 444,
"cds_end": null,
"cds_length": 585,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Asp131Asp",
"transcript": "ENST00000638216.1",
"protein_id": "ENSP00000491961.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 194,
"cds_start": 393,
"cds_end": null,
"cds_length": 585,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Asp131Asp",
"transcript": "ENST00000640443.1",
"protein_id": "ENSP00000492548.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 194,
"cds_start": 393,
"cds_end": null,
"cds_length": 585,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Asp131Asp",
"transcript": "ENST00000639287.1",
"protein_id": "ENSP00000492278.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 177,
"cds_start": 393,
"cds_end": null,
"cds_length": 534,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Asp131Asp",
"transcript": "ENST00000640269.1",
"protein_id": "ENSP00000492146.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 177,
"cds_start": 393,
"cds_end": null,
"cds_length": 534,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.456T>C",
"hgvs_p": "p.Asp152Asp",
"transcript": "ENST00000640806.1",
"protein_id": "ENSP00000491432.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 156,
"cds_start": 456,
"cds_end": null,
"cds_length": 471,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOSR2",
"gene_hgnc_id": 4431,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asp106Asp",
"transcript": "ENST00000639713.1",
"protein_id": "ENSP00000491100.1",
"transcript_support_level": 5,
"aa_start": 106,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP6",
"BP7"
],
"verdict": "Likely_benign",
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{
"score": -5,
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"BP6"
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"verdict": "Likely_benign",
"transcript": "ENST00000571841.1",
"gene_symbol": "ENSG00000262633",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.447T>C",
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},
{
"score": -5,
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"criteria": [
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"BP6"
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"verdict": "Likely_benign",
"transcript": "XM_024450773.2",
"gene_symbol": "LRRC37A2",
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"effects": [
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],
"clinvar_disease": "Progressive myoclonic epilepsy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Progressive myoclonic epilepsy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}