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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: 8-93704943-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=93704943&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 93704943,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000518322.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.365G>C",
"hgvs_p": "p.Arg122Pro",
"transcript": "NM_145269.5",
"protein_id": "NP_660312.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 289,
"cds_start": 365,
"cds_end": null,
"cds_length": 870,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": "ENST00000518322.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.365G>C",
"hgvs_p": "p.Arg122Pro",
"transcript": "ENST00000518322.6",
"protein_id": "ENSP00000429367.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 289,
"cds_start": 365,
"cds_end": null,
"cds_length": 870,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": "NM_145269.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.365G>C",
"hgvs_p": "p.Arg122Pro",
"transcript": "NM_001283034.2",
"protein_id": "NP_001269963.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 251,
"cds_start": 365,
"cds_end": null,
"cds_length": 756,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.365G>C",
"hgvs_p": "p.Arg122Pro",
"transcript": "ENST00000423990.6",
"protein_id": "ENSP00000401774.2",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 251,
"cds_start": 365,
"cds_end": null,
"cds_length": 756,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.395G>C",
"hgvs_p": "p.Arg132Pro",
"transcript": "ENST00000523453.5",
"protein_id": "ENSP00000430812.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 186,
"cds_start": 395,
"cds_end": null,
"cds_length": 562,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.389G>C",
"hgvs_p": "p.Arg130Pro",
"transcript": "ENST00000522803.5",
"protein_id": "ENSP00000428739.1",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 167,
"cds_start": 389,
"cds_end": null,
"cds_length": 505,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.365G>C",
"hgvs_p": "p.Arg122Pro",
"transcript": "ENST00000522324.5",
"protein_id": "ENSP00000430069.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 162,
"cds_start": 365,
"cds_end": null,
"cds_length": 489,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Arg52Pro",
"transcript": "ENST00000518829.5",
"protein_id": "ENSP00000428446.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 109,
"cds_start": 155,
"cds_end": null,
"cds_length": 331,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Arg52Pro",
"transcript": "ENST00000523475.5",
"protein_id": "ENSP00000430217.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 78,
"cds_start": 155,
"cds_end": null,
"cds_length": 237,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Arg52Pro",
"transcript": "ENST00000520955.5",
"protein_id": "ENSP00000427991.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 64,
"cds_start": 155,
"cds_end": null,
"cds_length": 196,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Pro",
"transcript": "ENST00000519135.1",
"protein_id": "ENSP00000428633.1",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 36,
"cds_start": 44,
"cds_end": null,
"cds_length": 111,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.365G>C",
"hgvs_p": "p.Arg122Pro",
"transcript": "XM_047421350.1",
"protein_id": "XP_047277306.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 162,
"cds_start": 365,
"cds_end": null,
"cds_length": 489,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.365G>C",
"hgvs_p": null,
"transcript": "ENST00000359421.9",
"protein_id": "ENSP00000352391.5",
"transcript_support_level": 3,
"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": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.365G>C",
"hgvs_p": null,
"transcript": "ENST00000452913.6",
"protein_id": "ENSP00000391671.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.365G>C",
"hgvs_p": null,
"transcript": "ENST00000518116.5",
"protein_id": "ENSP00000428065.1",
"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": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.*185G>C",
"hgvs_p": null,
"transcript": "ENST00000520937.5",
"protein_id": "ENSP00000429722.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.1545G>C",
"hgvs_p": null,
"transcript": "ENST00000523577.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "NR_104267.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4312,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "NR_104268.2",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "NR_156451.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "NR_156452.2",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "NR_156453.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "XR_001745468.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "XR_007060694.1",
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.*185G>C",
"hgvs_p": null,
"transcript": "ENST00000520937.5",
"protein_id": "ENSP00000429722.1",
"transcript_support_level": 3,
"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": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"dbsnp": "rs761322248",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7902418375015259,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.533,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.949,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000518322.6",
"gene_symbol": "CIBAR1",
"hgnc_id": 30452,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.365G>C",
"hgvs_p": "p.Arg122Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}