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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: 14-24857064-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24857064&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24857064,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014178.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001394410.1",
"protein_id": "NP_001381339.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": "ENST00000323944.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394410.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "ENST00000323944.10",
"protein_id": "ENSP00000324302.5",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": "NM_001394410.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323944.10"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "ENST00000396700.5",
"protein_id": "ENSP00000379928.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396700.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "ENST00000419632.6",
"protein_id": "ENSP00000397212.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419632.6"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "ENST00000546511.5",
"protein_id": "ENSP00000449536.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 1223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546511.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001304476.3",
"protein_id": "NP_001291405.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304476.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001304477.3",
"protein_id": "NP_001291406.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304477.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001351940.3",
"protein_id": "NP_001338869.2",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351940.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001351941.3",
"protein_id": "NP_001338870.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 4283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351941.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001351942.3",
"protein_id": "NP_001338871.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351942.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001351943.3",
"protein_id": "NP_001338872.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351943.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001394411.1",
"protein_id": "NP_001381340.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394411.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001394412.1",
"protein_id": "NP_001381341.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394412.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001394413.1",
"protein_id": "NP_001381342.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394413.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001394414.1",
"protein_id": "NP_001381343.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394414.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001394415.1",
"protein_id": "NP_001381344.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 4384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394415.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001394416.1",
"protein_id": "NP_001381345.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394416.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_014178.9",
"protein_id": "NP_054897.4",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 4861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014178.9"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "ENST00000550887.5",
"protein_id": "ENSP00000449379.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550887.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "ENST00000886564.1",
"protein_id": "ENSP00000556623.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886564.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "ENST00000886565.1",
"protein_id": "ENSP00000556624.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886565.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "ENST00000886567.1",
"protein_id": "ENSP00000556626.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 210,
"cds_start": 248,
"cds_end": null,
"cds_length": 633,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000548182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "n.*212A>C",
"hgvs_p": null,
"transcript": "ENST00000548182.1",
"protein_id": "ENSP00000447268.1",
"transcript_support_level": 2,
"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": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000548182.1"
}
],
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"dbsnp": null,
"frequency_reference_population": 0.0000013690809,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136908,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19115018844604492,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.1946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.199,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014178.9",
"gene_symbol": "STXBP6",
"hgnc_id": 19666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}