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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: 17-42316899-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42316899&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42316899,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_139276.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "NM_139276.3",
"protein_id": "NP_644805.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264657.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139276.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "ENST00000264657.10",
"protein_id": "ENSP00000264657.4",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139276.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264657.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "ENST00000588969.5",
"protein_id": "ENSP00000467985.1",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588969.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2144C>T",
"hgvs_p": "p.Thr715Met",
"transcript": "ENST00000404395.3",
"protein_id": "ENSP00000384943.3",
"transcript_support_level": 1,
"aa_start": 715,
"aa_end": null,
"aa_length": 769,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404395.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2243C>T",
"hgvs_p": "p.Thr748Met",
"transcript": "ENST00000677421.1",
"protein_id": "ENSP00000503599.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 802,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677421.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2243C>T",
"hgvs_p": "p.Thr748Met",
"transcript": "ENST00000858559.1",
"protein_id": "ENSP00000528618.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 802,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858559.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2243C>T",
"hgvs_p": "p.Thr748Met",
"transcript": "ENST00000943790.1",
"protein_id": "ENSP00000613849.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 802,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943790.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2174C>T",
"hgvs_p": "p.Thr725Met",
"transcript": "ENST00000922766.1",
"protein_id": "ENSP00000592825.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 779,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922766.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Thr721Met",
"transcript": "ENST00000678792.1",
"protein_id": "ENSP00000504435.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 775,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678792.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Thr721Met",
"transcript": "ENST00000678913.1",
"protein_id": "ENSP00000504609.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 775,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678913.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2162C>T",
"hgvs_p": "p.Thr721Met",
"transcript": "ENST00000858553.1",
"protein_id": "ENSP00000528612.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 775,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858553.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2159C>T",
"hgvs_p": "p.Thr720Met",
"transcript": "ENST00000858554.1",
"protein_id": "ENSP00000528613.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 774,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858554.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2159C>T",
"hgvs_p": "p.Thr720Met",
"transcript": "ENST00000922763.1",
"protein_id": "ENSP00000592822.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 774,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922763.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2159C>T",
"hgvs_p": "p.Thr720Met",
"transcript": "ENST00000943782.1",
"protein_id": "ENSP00000613841.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 774,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943782.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "NM_001369512.1",
"protein_id": "NP_001356441.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369512.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "NM_001369513.1",
"protein_id": "NP_001356442.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369513.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "ENST00000678044.1",
"protein_id": "ENSP00000503102.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678044.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "ENST00000678906.1",
"protein_id": "ENSP00000504184.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678906.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "ENST00000678960.1",
"protein_id": "ENSP00000503181.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678960.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "ENST00000715205.1",
"protein_id": "ENSP00000520412.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715205.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Thr716Met",
"transcript": "ENST00000943797.1",
"protein_id": "ENSP00000613856.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 770,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943797.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
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],
"clinvar_disease": " autosomal dominant,Hyper-IgE recurrent infection syndrome 1,STAT3 gain of function,STAT3-related early-onset multisystem autoimmune disease,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "STAT3-related early-onset multisystem autoimmune disease|not provided|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}