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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: 8-124700179-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=124700179&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MTSS1",
"hgnc_id": 20443,
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001282971.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 755,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": null,
"cds_end": null,
"cds_length": 2268,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014751.6",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000518547.6",
"protein_coding": true,
"protein_id": "NP_055566.3",
"strand": false,
"transcript": "NM_014751.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 755,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": null,
"cds_end": null,
"cds_length": 2268,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000518547.6",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014751.6",
"protein_coding": true,
"protein_id": "ENSP00000429064.1",
"strand": false,
"transcript": "ENST00000518547.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 730,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4458,
"cdna_start": null,
"cds_end": null,
"cds_length": 2193,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378017.7",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367256.3",
"strand": false,
"transcript": "ENST00000378017.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 759,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5006,
"cdna_start": null,
"cds_end": null,
"cds_length": 2280,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282971.2",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269900.1",
"strand": false,
"transcript": "NM_001282971.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 759,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": null,
"cds_end": null,
"cds_length": 2280,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000325064.9",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322804.5",
"strand": false,
"transcript": "ENST00000325064.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 754,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": null,
"cds_end": null,
"cds_length": 2265,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363294.2",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350223.1",
"strand": false,
"transcript": "NM_001363294.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 754,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": null,
"cds_end": null,
"cds_length": 2265,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898436.1",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568495.1",
"strand": false,
"transcript": "ENST00000898436.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 753,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4988,
"cdna_start": null,
"cds_end": null,
"cds_length": 2262,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898437.1",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568496.1",
"strand": false,
"transcript": "ENST00000898437.1",
"transcript_support_level": null
},
{
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"aa_length": 738,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4943,
"cdna_start": null,
"cds_end": null,
"cds_length": 2217,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363295.2",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350224.1",
"strand": false,
"transcript": "NM_001363295.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2217,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898433.1",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568492.1",
"strand": false,
"transcript": "ENST00000898433.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000898438.1",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568497.1",
"strand": false,
"transcript": "ENST00000898438.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
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"feature": "NM_001363296.2",
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"protein_coding": true,
"protein_id": "NP_001350225.1",
"strand": false,
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},
{
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"feature": "NM_001363297.2",
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"protein_id": "NP_001350226.1",
"strand": false,
"transcript": "NM_001363297.2",
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},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "NM_001282974.2",
"gene_hgnc_id": 20443,
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"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
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"protein_coding": true,
"protein_id": "NP_001269903.1",
"strand": false,
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},
{
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],
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"feature": "NM_001363298.2",
"gene_hgnc_id": 20443,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001350227.1",
"strand": false,
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},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000898435.1",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568494.1",
"strand": false,
"transcript": "ENST00000898435.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001363299.2",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
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},
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],
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"feature": "NM_001363300.2",
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},
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],
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"feature": "ENST00000898434.1",
"gene_hgnc_id": 20443,
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"strand": false,
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},
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"consequences": [
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],
"exon_count": 13,
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"feature": "NM_001363301.2",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001350230.1",
"strand": false,
"transcript": "NM_001363301.2",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898439.1",
"gene_hgnc_id": 20443,
"gene_symbol": "MTSS1",
"hgvs_c": "c.135-580C>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568498.1",
"strand": false,
"transcript": "ENST00000898439.1",
"transcript_support_level": null
},
{
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