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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: 17-42323029-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42323029&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42323029,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139276.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "NM_139276.3",
"protein_id": "NP_644805.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"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": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "ENST00000264657.10",
"protein_id": "ENSP00000264657.4",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "ENST00000588969.5",
"protein_id": "ENSP00000467985.1",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "ENST00000404395.3",
"protein_id": "ENSP00000384943.3",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 769,
"cds_start": 1863,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1959C>A",
"hgvs_p": "p.Phe653Leu",
"transcript": "ENST00000677421.1",
"protein_id": "ENSP00000503599.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 802,
"cds_start": 1959,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1959C>A",
"hgvs_p": "p.Phe653Leu",
"transcript": "ENST00000858559.1",
"protein_id": "ENSP00000528618.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 802,
"cds_start": 1959,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1959C>A",
"hgvs_p": "p.Phe653Leu",
"transcript": "ENST00000943790.1",
"protein_id": "ENSP00000613849.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 802,
"cds_start": 1959,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1890C>A",
"hgvs_p": "p.Phe630Leu",
"transcript": "ENST00000922766.1",
"protein_id": "ENSP00000592825.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 779,
"cds_start": 1890,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1878C>A",
"hgvs_p": "p.Phe626Leu",
"transcript": "ENST00000678792.1",
"protein_id": "ENSP00000504435.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 775,
"cds_start": 1878,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1878C>A",
"hgvs_p": "p.Phe626Leu",
"transcript": "ENST00000678913.1",
"protein_id": "ENSP00000504609.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 775,
"cds_start": 1878,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1878C>A",
"hgvs_p": "p.Phe626Leu",
"transcript": "ENST00000858553.1",
"protein_id": "ENSP00000528612.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 775,
"cds_start": 1878,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1878C>A",
"hgvs_p": "p.Phe626Leu",
"transcript": "ENST00000858554.1",
"protein_id": "ENSP00000528613.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 774,
"cds_start": 1878,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1878C>A",
"hgvs_p": "p.Phe626Leu",
"transcript": "ENST00000922763.1",
"protein_id": "ENSP00000592822.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 774,
"cds_start": 1878,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1878C>A",
"hgvs_p": "p.Phe626Leu",
"transcript": "ENST00000943782.1",
"protein_id": "ENSP00000613841.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 774,
"cds_start": 1878,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "NM_001369512.1",
"protein_id": "NP_001356441.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "NM_001369513.1",
"protein_id": "NP_001356442.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "ENST00000678044.1",
"protein_id": "ENSP00000503102.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "ENST00000678906.1",
"protein_id": "ENSP00000504184.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678906.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "ENST00000678960.1",
"protein_id": "ENSP00000503181.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678960.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "ENST00000715205.1",
"protein_id": "ENSP00000520412.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715205.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "ENST00000943797.1",
"protein_id": "ENSP00000613856.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1863,
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu",
"transcript": "NM_001369514.1",
"protein_id": "NP_001356443.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 769,
"cds_start": 1863,
"cds_end": null,
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"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8143819570541382,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.542,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.422,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_139276.3",
"gene_symbol": "STAT3",
"hgnc_id": 11364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1863C>A",
"hgvs_p": "p.Phe621Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}