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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: 3-10304126-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10304126&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 10304126,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001136026.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.755C>A",
"hgvs_p": "p.Thr252Lys",
"transcript": "NM_183352.3",
"protein_id": "NP_899195.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 322,
"cds_start": 755,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350697.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183352.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.755C>A",
"hgvs_p": "p.Thr252Lys",
"transcript": "ENST00000350697.8",
"protein_id": "ENSP00000312122.4",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 322,
"cds_start": 755,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_183352.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350697.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.764C>A",
"hgvs_p": "p.Thr255Lys",
"transcript": "ENST00000337354.8",
"protein_id": "ENSP00000336566.4",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 764,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337354.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Thr238Lys",
"transcript": "ENST00000397109.7",
"protein_id": "ENSP00000380298.3",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 308,
"cds_start": 713,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397109.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "n.1832C>A",
"hgvs_p": null,
"transcript": "ENST00000479868.6",
"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": "retained_intron",
"feature": "ENST00000479868.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Thr298Lys",
"transcript": "NM_001136026.3",
"protein_id": "NP_001129498.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 368,
"cds_start": 893,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136026.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Thr298Lys",
"transcript": "ENST00000383801.6",
"protein_id": "ENSP00000373312.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 368,
"cds_start": 893,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383801.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Thr261Lys",
"transcript": "ENST00000931946.1",
"protein_id": "ENSP00000602008.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 331,
"cds_start": 782,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931946.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.764C>A",
"hgvs_p": "p.Thr255Lys",
"transcript": "NM_030673.4",
"protein_id": "NP_109598.2",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 764,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030673.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.749C>A",
"hgvs_p": "p.Thr250Lys",
"transcript": "ENST00000931945.1",
"protein_id": "ENSP00000602004.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 320,
"cds_start": 749,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931945.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Thr238Lys",
"transcript": "NM_001136232.3",
"protein_id": "NP_001129704.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 308,
"cds_start": 713,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136232.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.710C>A",
"hgvs_p": "p.Thr237Lys",
"transcript": "ENST00000873983.1",
"protein_id": "ENSP00000544042.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 307,
"cds_start": 710,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873983.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.695C>A",
"hgvs_p": "p.Thr232Lys",
"transcript": "ENST00000873984.1",
"protein_id": "ENSP00000544043.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 302,
"cds_start": 695,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873984.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Thr238Lys",
"transcript": "ENST00000397117.5",
"protein_id": "ENSP00000380306.1",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 284,
"cds_start": 713,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397117.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Thr298Lys",
"transcript": "XM_047448687.1",
"protein_id": "XP_047304643.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 368,
"cds_start": 893,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448687.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Thr298Lys",
"transcript": "XM_047448688.1",
"protein_id": "XP_047304644.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 368,
"cds_start": 893,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448688.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Thr298Lys",
"transcript": "XM_047448689.1",
"protein_id": "XP_047304645.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 344,
"cds_start": 893,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448689.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Thr298Lys",
"transcript": "XM_047448697.1",
"protein_id": "XP_047304653.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 344,
"cds_start": 893,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448697.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.809C>A",
"hgvs_p": "p.Thr270Lys",
"transcript": "XM_047448690.1",
"protein_id": "XP_047304646.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 340,
"cds_start": 809,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448690.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.809C>A",
"hgvs_p": "p.Thr270Lys",
"transcript": "XM_047448691.1",
"protein_id": "XP_047304647.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 340,
"cds_start": 809,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448691.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.764C>A",
"hgvs_p": "p.Thr255Lys",
"transcript": "XM_047448692.1",
"protein_id": "XP_047304648.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 764,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448692.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC13",
"gene_hgnc_id": 10697,
"hgvs_c": "c.764C>A",
"hgvs_p": "p.Thr255Lys",
"transcript": "XM_047448693.1",
"protein_id": "XP_047304649.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 764,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448693.1"
},
{
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}
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}