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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: 17-46034247-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46034247&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46034247,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000432791.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "NM_015443.4",
"protein_id": "NP_056258.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": "ENST00000432791.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "ENST00000432791.7",
"protein_id": "ENSP00000387393.3",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": "NM_015443.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "ENST00000262419.10",
"protein_id": "ENSP00000262419.6",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 5309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "n.6797T>C",
"hgvs_p": null,
"transcript": "ENST00000572218.5",
"protein_id": null,
"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": 9095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "NM_001193466.2",
"protein_id": "NP_001180395.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "NM_001379198.1",
"protein_id": "NP_001366127.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "NM_001405854.1",
"protein_id": "NP_001392783.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "NM_001405855.1",
"protein_id": "NP_001392784.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "ENST00000572904.6",
"protein_id": "ENSP00000461484.1",
"transcript_support_level": 5,
"aa_start": 860,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2577T>C",
"hgvs_p": "p.Phe859Phe",
"transcript": "NM_001193465.2",
"protein_id": "NP_001180394.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2577,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2577T>C",
"hgvs_p": "p.Phe859Phe",
"transcript": "NM_001405856.1",
"protein_id": "NP_001392785.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2577,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2577T>C",
"hgvs_p": "p.Phe859Phe",
"transcript": "NM_001405857.1",
"protein_id": "NP_001392786.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2577,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2577T>C",
"hgvs_p": "p.Phe859Phe",
"transcript": "NM_001405858.1",
"protein_id": "NP_001392787.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2577,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2577T>C",
"hgvs_p": "p.Phe859Phe",
"transcript": "ENST00000574590.6",
"protein_id": "ENSP00000461812.2",
"transcript_support_level": 2,
"aa_start": 859,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2577,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2478T>C",
"hgvs_p": "p.Phe826Phe",
"transcript": "NM_001405859.1",
"protein_id": "NP_001392788.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2478,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2478T>C",
"hgvs_p": "p.Phe826Phe",
"transcript": "NM_001405860.1",
"protein_id": "NP_001392789.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2478,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2475T>C",
"hgvs_p": "p.Phe825Phe",
"transcript": "NM_001405861.1",
"protein_id": "NP_001392790.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2475,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2725,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "NM_001405872.1",
"protein_id": "NP_001392801.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "NM_001405873.1",
"protein_id": "NP_001392802.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2580,
"cds_end": null,
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"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "NM_001405874.1",
"protein_id": "NP_001392803.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe",
"transcript": "ENST00000648792.1",
"protein_id": "ENSP00000497628.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2580,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2391T>C",
"hgvs_p": "p.Phe797Phe",
"transcript": "NM_001405875.1",
"protein_id": "NP_001392804.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2391,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 4939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 4,
"intron_rank": null,
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"transcript": "ENST00000640092.1",
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"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
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"hgvs_c": "n.1678T>C",
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"transcript": "ENST00000640519.1",
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},
{
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"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 5,
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"gene_symbol": "KANSL1",
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"hgvs_c": "n.175T>C",
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"transcript": "ENST00000640751.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 5,
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"gene_symbol": "KANSL1",
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"hgvs_c": "n.-13T>C",
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"transcript": "ENST00000639805.1",
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"transcript_support_level": 4,
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"cdna_length": 557,
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}
],
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"dbsnp": "rs17574604",
"frequency_reference_population": 0.1886204,
"hom_count_reference_population": 32776,
"allele_count_reference_population": 304356,
"gnomad_exomes_af": 0.193354,
"gnomad_genomes_af": 0.143188,
"gnomad_exomes_ac": 282555,
"gnomad_genomes_ac": 21801,
"gnomad_exomes_homalt": 30640,
"gnomad_genomes_homalt": 2136,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.635,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000432791.7",
"gene_symbol": "KANSL1",
"hgnc_id": 24565,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2580T>C",
"hgvs_p": "p.Phe860Phe"
}
],
"clinvar_disease": "Koolen-de Vries syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Koolen-de Vries syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}