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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: 15-23000669-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=23000669&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 23000669,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001354372.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2928A>G",
"hgvs_p": "p.Arg976Arg",
"transcript": "NM_052903.6",
"protein_id": "NP_443135.3",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2928,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000615383.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052903.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2928A>G",
"hgvs_p": "p.Arg976Arg",
"transcript": "ENST00000615383.5",
"protein_id": "ENSP00000480316.1",
"transcript_support_level": 1,
"aa_start": 976,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2928,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_052903.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615383.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2931A>G",
"hgvs_p": "p.Arg977Arg",
"transcript": "NM_001354372.2",
"protein_id": "NP_001341301.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354372.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2928A>G",
"hgvs_p": "p.Arg976Arg",
"transcript": "NM_001354373.2",
"protein_id": "NP_001341302.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2928,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354373.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2886A>G",
"hgvs_p": "p.Arg962Arg",
"transcript": "NM_001354374.2",
"protein_id": "NP_001341303.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2886,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354374.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2928A>G",
"hgvs_p": "p.Arg976Arg",
"transcript": "NM_001354375.2",
"protein_id": "NP_001341304.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2928,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354375.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2928A>G",
"hgvs_p": "p.Arg976Arg",
"transcript": "NM_001354376.2",
"protein_id": "NP_001341305.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2928,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354376.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2931A>G",
"hgvs_p": "p.Arg977Arg",
"transcript": "NM_001354377.2",
"protein_id": "NP_001341306.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354377.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2931A>G",
"hgvs_p": "p.Arg977Arg",
"transcript": "NM_001354378.2",
"protein_id": "NP_001341307.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354378.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2928A>G",
"hgvs_p": "p.Arg976Arg",
"transcript": "NM_001102610.2",
"protein_id": "NP_001096080.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2928,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102610.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2928A>G",
"hgvs_p": "p.Arg976Arg",
"transcript": "ENST00000620435.4",
"protein_id": "ENSP00000481853.1",
"transcript_support_level": 2,
"aa_start": 976,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2928,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620435.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2904A>G",
"hgvs_p": "p.Arg968Arg",
"transcript": "ENST00000959740.1",
"protein_id": "ENSP00000629799.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2904,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959740.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2877A>G",
"hgvs_p": "p.Arg959Arg",
"transcript": "ENST00000939427.1",
"protein_id": "ENSP00000609486.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2877,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2974,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939427.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2841A>G",
"hgvs_p": "p.Arg947Arg",
"transcript": "ENST00000861886.1",
"protein_id": "ENSP00000531945.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 995,
"cds_start": 2841,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861886.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2805A>G",
"hgvs_p": "p.Arg935Arg",
"transcript": "ENST00000939428.1",
"protein_id": "ENSP00000609487.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 983,
"cds_start": 2805,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2829,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939428.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2745A>G",
"hgvs_p": "p.Arg915Arg",
"transcript": "ENST00000861884.1",
"protein_id": "ENSP00000531943.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 963,
"cds_start": 2745,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861884.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2739A>G",
"hgvs_p": "p.Arg913Arg",
"transcript": "ENST00000861885.1",
"protein_id": "ENSP00000531944.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 961,
"cds_start": 2739,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861885.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2931A>G",
"hgvs_p": "p.Arg977Arg",
"transcript": "XM_011543868.3",
"protein_id": "XP_011542170.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543868.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2931A>G",
"hgvs_p": "p.Arg977Arg",
"transcript": "XM_011543870.3",
"protein_id": "XP_011542172.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543870.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2490A>G",
"hgvs_p": "p.Arg830Arg",
"transcript": "XM_017021894.2",
"protein_id": "XP_016877383.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 914,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021894.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP5",
"gene_hgnc_id": 18600,
"hgvs_c": "c.2490A>G",
"hgvs_p": "p.Arg830Arg",
"transcript": "XM_047432130.1",
"protein_id": "XP_047288086.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 914,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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"synonymous_variant"
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},
{
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},
{
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{
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],
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{
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"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
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],
"gene_symbol": "TUBGCP5",
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"dbsnp": "rs746597253",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 58,
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"gnomad_exomes_ac": 53,
"gnomad_genomes_ac": 5,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.15399999916553497,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.493,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.97,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.011377585288736,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001354372.2",
"gene_symbol": "TUBGCP5",
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"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}