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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: 9-127678475-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127678475&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127678475,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000373299.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1404C>A",
"hgvs_p": "p.Ile468Ile",
"transcript": "NM_003165.6",
"protein_id": "NP_003156.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 603,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": "ENST00000373302.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1404C>A",
"hgvs_p": "p.Ile468Ile",
"transcript": "ENST00000373302.8",
"protein_id": "ENSP00000362399.3",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 603,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": "NM_003165.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1404C>A",
"hgvs_p": "p.Ile468Ile",
"transcript": "NM_001032221.6",
"protein_id": "NP_001027392.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 594,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000373299.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1404C>A",
"hgvs_p": "p.Ile468Ile",
"transcript": "ENST00000373299.5",
"protein_id": "ENSP00000362396.2",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 594,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001032221.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1404C>A",
"hgvs_p": "p.Ile468Ile",
"transcript": "ENST00000494254.4",
"protein_id": "ENSP00000485397.2",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 603,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1404C>A",
"hgvs_p": "p.Ile468Ile",
"transcript": "ENST00000647107.2",
"protein_id": "ENSP00000494727.2",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1404C>A",
"hgvs_p": "p.Ile468Ile",
"transcript": "ENST00000713766.1",
"protein_id": "ENSP00000519067.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 599,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1395C>A",
"hgvs_p": "p.Ile465Ile",
"transcript": "NM_001374306.2",
"protein_id": "NP_001361235.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 591,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "NM_001374307.2",
"protein_id": "NP_001361236.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 589,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "NM_001374308.2",
"protein_id": "NP_001361237.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 589,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "ENST00000637521.2",
"protein_id": "ENSP00000489791.1",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 589,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "ENST00000650920.1",
"protein_id": "ENSP00000498834.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 589,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "NM_001374309.2",
"protein_id": "NP_001361238.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "NM_001374310.2",
"protein_id": "NP_001361239.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "NM_001374311.2",
"protein_id": "NP_001361240.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "NM_001374312.2",
"protein_id": "NP_001361241.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "ENST00000625363.3",
"protein_id": "ENSP00000486944.2",
"transcript_support_level": 4,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "ENST00000626333.2",
"protein_id": "ENSP00000486814.2",
"transcript_support_level": 4,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "ENST00000626539.3",
"protein_id": "ENSP00000487211.2",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "ENST00000627871.3",
"protein_id": "ENSP00000485895.2",
"transcript_support_level": 3,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "ENST00000637173.2",
"protein_id": "ENSP00000490519.1",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.1362C>A",
"hgvs_p": "p.Ile454Ile",
"transcript": "ENST00000704680.1",
"protein_id": "ENSP00000515991.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 580,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
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"clinvar_submissions_summary": "US:1 LB:2 B:2",
"phenotype_combined": "not specified|Developmental and epileptic encephalopathy|Inborn genetic diseases|not provided",
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}
],
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}