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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: 8-133095200-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133095200&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "TG",
"hgnc_id": 11764,
"hgvs_c": "c.7396C>T",
"hgvs_p": "p.Gln2466*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_003235.5",
"verdict": "Pathogenic"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLA",
"hgnc_id": 10902,
"hgvs_c": "c.11+7353G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001045557.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13600000739097595,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "Q",
"aa_start": 2466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 7439,
"cds_end": null,
"cds_length": 8307,
"cds_start": 7396,
"consequences": [
"stop_gained"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_003235.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7396C>T",
"hgvs_p": "p.Gln2466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000220616.9",
"protein_coding": true,
"protein_id": "NP_003226.4",
"strand": true,
"transcript": "NM_003235.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "Q",
"aa_start": 2466,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 7439,
"cds_end": null,
"cds_length": 8307,
"cds_start": 7396,
"consequences": [
"stop_gained"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000220616.9",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7396C>T",
"hgvs_p": "p.Gln2466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003235.5",
"protein_coding": true,
"protein_id": "ENSP00000220616.4",
"strand": true,
"transcript": "ENST00000220616.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 276,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": null,
"cds_end": null,
"cds_length": 831,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001045556.3",
"gene_hgnc_id": 10902,
"gene_symbol": "SLA",
"hgvs_c": "c.-319+7353G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338087.10",
"protein_coding": true,
"protein_id": "NP_001039021.1",
"strand": false,
"transcript": "NM_001045556.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 276,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": null,
"cds_end": null,
"cds_length": 831,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000338087.10",
"gene_hgnc_id": 10902,
"gene_symbol": "SLA",
"hgvs_c": "c.-319+7353G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001045556.3",
"protein_coding": true,
"protein_id": "ENSP00000337548.5",
"strand": false,
"transcript": "ENST00000338087.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 293,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": null,
"cds_end": null,
"cds_length": 882,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395352.7",
"gene_hgnc_id": 10902,
"gene_symbol": "SLA",
"hgvs_c": "c.11+7353G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378759.3",
"strand": false,
"transcript": "ENST00000395352.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000523756.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.*3609C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428628.1",
"strand": true,
"transcript": "ENST00000523756.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000523756.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.*3609C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428628.1",
"strand": true,
"transcript": "ENST00000523756.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1217,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000518565.5",
"gene_hgnc_id": 10902,
"gene_symbol": "SLA",
"hgvs_c": "n.324+7353G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000518565.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "Q",
"aa_start": 921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3706,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 3672,
"cds_start": 2761,
"consequences": [
"stop_gained"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000519178.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.2761C>T",
"hgvs_p": "p.Gln921*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430523.1",
"strand": true,
"transcript": "ENST00000519178.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 901,
"aa_ref": "Q",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2706,
"cds_start": 1795,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000519543.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.Gln599*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430430.1",
"strand": true,
"transcript": "ENST00000519543.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2747,
"aa_ref": "Q",
"aa_start": 2445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8392,
"cdna_start": 7376,
"cds_end": null,
"cds_length": 8244,
"cds_start": 7333,
"consequences": [
"stop_gained"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_006716622.4",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7333C>T",
"hgvs_p": "p.Gln2445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716685.1",
"strand": true,
"transcript": "XM_006716622.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2746,
"aa_ref": "Q",
"aa_start": 2444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8389,
"cdna_start": 7373,
"cds_end": null,
"cds_length": 8241,
"cds_start": 7330,
"consequences": [
"stop_gained"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_017013793.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7330C>T",
"hgvs_p": "p.Gln2444*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869282.1",
"strand": true,
"transcript": "XM_017013793.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2723,
"aa_ref": "Q",
"aa_start": 2466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8320,
"cdna_start": 7439,
"cds_end": null,
"cds_length": 8172,
"cds_start": 7396,
"consequences": [
"stop_gained"
],
"exon_count": 47,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017013794.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7396C>T",
"hgvs_p": "p.Gln2466*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869283.1",
"strand": true,
"transcript": "XM_017013794.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2711,
"aa_ref": "Q",
"aa_start": 2409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8284,
"cdna_start": 7268,
"cds_end": null,
"cds_length": 8136,
"cds_start": 7225,
"consequences": [
"stop_gained"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_017013795.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7225C>T",
"hgvs_p": "p.Gln2409*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869284.1",
"strand": true,
"transcript": "XM_017013795.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2704,
"aa_ref": "Q",
"aa_start": 2402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": 7247,
"cds_end": null,
"cds_length": 8115,
"cds_start": 7204,
"consequences": [
"stop_gained"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_005251038.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7204C>T",
"hgvs_p": "p.Gln2402*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251095.1",
"strand": true,
"transcript": "XM_005251038.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "Q",
"aa_start": 2393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8236,
"cdna_start": 7220,
"cds_end": null,
"cds_length": 8088,
"cds_start": 7177,
"consequences": [
"stop_gained"
],
"exon_count": 47,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_017013796.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7177C>T",
"hgvs_p": "p.Gln2393*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869285.1",
"strand": true,
"transcript": "XM_017013796.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2681,
"aa_ref": "Q",
"aa_start": 2379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8199,
"cdna_start": 7183,
"cds_end": null,
"cds_length": 8046,
"cds_start": 7135,
"consequences": [
"stop_gained"
],
"exon_count": 46,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_047422166.1",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.7135C>T",
"hgvs_p": "p.Gln2379*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278122.1",
"strand": true,
"transcript": "XM_047422166.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 293,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": null,
"cds_end": null,
"cds_length": 882,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001045557.3",
"gene_hgnc_id": 10902,
"gene_symbol": "SLA",
"hgvs_c": "c.11+7353G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001039022.2",
"strand": false,
"transcript": "NM_001045557.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": null,
"cds_end": null,
"cds_length": 750,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282964.2",
"gene_hgnc_id": 10902,
"gene_symbol": "SLA",
"hgvs_c": "c.11+7353G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269893.1",
"strand": false,
"transcript": "NM_001282964.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 896,
"cdna_start": null,
"cds_end": null,
"cds_length": 750,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517648.5",
"gene_hgnc_id": 10902,
"gene_symbol": "SLA",
"hgvs_c": "c.11+7353G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428559.1",
"strand": false,
"transcript": "ENST00000517648.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": null,
"cds_end": null,
"cds_length": 507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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