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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: 15-74190889-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74190889&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74190889,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001199042.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "NM_022369.4",
"protein_id": "NP_071764.3",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395105.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022369.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000395105.9",
"protein_id": "ENSP00000378537.4",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022369.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395105.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Pro332Leu",
"transcript": "ENST00000563965.5",
"protein_id": "ENSP00000456609.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 706,
"cds_start": 995,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563965.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"transcript": "ENST00000423167.6",
"protein_id": "ENSP00000413012.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 658,
"cds_start": 851,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423167.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "n.1008C>T",
"hgvs_p": null,
"transcript": "ENST00000569936.5",
"protein_id": "ENSP00000461799.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000569936.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Pro332Leu",
"transcript": "NM_001199042.2",
"protein_id": "NP_001185971.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 706,
"cds_start": 995,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199042.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Pro330Leu",
"transcript": "NM_001199040.2",
"protein_id": "NP_001185969.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 704,
"cds_start": 989,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199040.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Pro330Leu",
"transcript": "ENST00000535552.5",
"protein_id": "ENSP00000440238.1",
"transcript_support_level": 2,
"aa_start": 330,
"aa_end": null,
"aa_length": 704,
"cds_start": 989,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535552.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"transcript": "NM_001199041.2",
"protein_id": "NP_001185970.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 682,
"cds_start": 923,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199041.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Pro308Leu",
"transcript": "ENST00000574278.5",
"protein_id": "ENSP00000458827.1",
"transcript_support_level": 2,
"aa_start": 308,
"aa_end": null,
"aa_length": 682,
"cds_start": 923,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574278.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "NM_001142617.2",
"protein_id": "NP_001136089.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142617.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "NM_001142618.2",
"protein_id": "NP_001136090.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142618.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "NM_001437994.1",
"protein_id": "NP_001424923.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437994.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000323940.9",
"protein_id": "ENSP00000326085.5",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323940.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000449139.6",
"protein_id": "ENSP00000410221.2",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449139.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000616000.4",
"protein_id": "ENSP00000479112.1",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616000.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000863855.1",
"protein_id": "ENSP00000533914.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863855.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000863856.1",
"protein_id": "ENSP00000533915.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863856.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000935164.1",
"protein_id": "ENSP00000605223.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935164.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000935166.1",
"protein_id": "ENSP00000605225.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935166.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000935167.1",
"protein_id": "ENSP00000605226.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935167.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000948078.1",
"protein_id": "ENSP00000618137.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 878,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948078.1"
},
{
"aa_ref": "P",
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"phenotype_combined": "Matthew-Wood syndrome|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
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}
],
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}