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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: 8-67158977-TTTTTA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67158977&ref=TTTTTA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 67158977,
"ref": "TTTTTA",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001364869.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2392-8_2392-4delTTTTA",
"hgvs_p": null,
"transcript": "NM_001382391.1",
"protein_id": "NP_001369320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": null,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000678616.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382391.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2392-13_2392-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000678616.1",
"protein_id": "ENSP00000504733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": null,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382391.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2458-13_2458-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000262210.11",
"protein_id": "ENSP00000262210.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": null,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262210.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1342-13_1342-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000519668.1",
"protein_id": "ENSP00000430092.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": null,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "n.382-13_382-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000521168.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521168.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2500-13_2500-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000676605.1",
"protein_id": "ENSP00000503605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": null,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2500-13_2500-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000678542.1",
"protein_id": "ENSP00000503878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": null,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2482-13_2482-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000674993.1",
"protein_id": "ENSP00000502454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1256,
"cds_start": null,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674993.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2458-8_2458-4delTTTTA",
"hgvs_p": null,
"transcript": "NM_001364869.1",
"protein_id": "NP_001351798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": null,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364869.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2377-8_2377-4delTTTTA",
"hgvs_p": null,
"transcript": "NM_024790.7",
"protein_id": "NP_079066.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1221,
"cds_start": null,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024790.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2377-13_2377-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000676317.1",
"protein_id": "ENSP00000502047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1221,
"cds_start": null,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676317.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2371-13_2371-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000676847.1",
"protein_id": "ENSP00000503336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": null,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2359-13_2359-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000677592.1",
"protein_id": "ENSP00000504516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1215,
"cds_start": null,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677592.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2350-13_2350-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000676113.1",
"protein_id": "ENSP00000501645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1212,
"cds_start": null,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2350-13_2350-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000853676.1",
"protein_id": "ENSP00000523735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1212,
"cds_start": null,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2311-8_2311-4delTTTTA",
"hgvs_p": null,
"transcript": "NM_001363131.2",
"protein_id": "NP_001350060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": null,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363131.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2311-13_2311-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000675955.1",
"protein_id": "ENSP00000501676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
"cds_start": null,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2278-8_2278-4delTTTTA",
"hgvs_p": null,
"transcript": "NM_001364870.1",
"protein_id": "NP_001351799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364870.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2278-13_2278-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000676882.1",
"protein_id": "ENSP00000504342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2269-13_2269-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000678645.1",
"protein_id": "ENSP00000504031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1185,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2269-13_2269-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000914794.1",
"protein_id": "ENSP00000584853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1185,
"cds_start": null,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2269-13_2269-9delTTTTA",
"hgvs_p": null,
"transcript": "ENST00000914795.1",
"protein_id": "ENSP00000584854.1",
"transcript_support_level": null,
"aa_start": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 0.56,
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"acmg_score": -16,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Benign",
"transcript": "NM_001364869.1",
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"effects": [
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],
"clinvar_disease": "Joubert syndrome 21,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "Joubert syndrome 21|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}