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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: 6-144187456-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=144187456&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 144187456,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003764.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "NM_003764.4",
"protein_id": "NP_003755.2",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367568.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003764.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000367568.5",
"protein_id": "ENSP00000356540.4",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003764.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367568.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000698355.1",
"protein_id": "ENSP00000513678.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698355.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000698356.1",
"protein_id": "ENSP00000513679.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698356.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000698357.1",
"protein_id": "ENSP00000513680.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698357.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872511.1",
"protein_id": "ENSP00000542570.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872511.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872512.1",
"protein_id": "ENSP00000542571.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872512.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872513.1",
"protein_id": "ENSP00000542572.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872513.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872514.1",
"protein_id": "ENSP00000542573.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872514.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872515.1",
"protein_id": "ENSP00000542574.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872515.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872516.1",
"protein_id": "ENSP00000542575.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872516.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872517.1",
"protein_id": "ENSP00000542576.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872517.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872518.1",
"protein_id": "ENSP00000542577.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872518.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000872519.1",
"protein_id": "ENSP00000542578.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872519.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000951880.1",
"protein_id": "ENSP00000621939.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951880.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000951881.1",
"protein_id": "ENSP00000621940.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951881.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000951882.1",
"protein_id": "ENSP00000621941.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951882.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "ENST00000951883.1",
"protein_id": "ENSP00000621942.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951883.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.907A>C",
"hgvs_p": "p.Thr303Pro",
"transcript": "XM_011536213.3",
"protein_id": "XP_011534515.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 313,
"cds_start": 907,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536213.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.907A>C",
"hgvs_p": "p.Thr303Pro",
"transcript": "XM_047419436.1",
"protein_id": "XP_047275392.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 313,
"cds_start": 907,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419436.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "XM_011536214.3",
"protein_id": "XP_011534516.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536214.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX11",
"gene_hgnc_id": 11429,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Thr277Pro",
"transcript": "XM_011536217.3",
"protein_id": "XP_011534519.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 287,
"cds_start": 829,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}