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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: 1-156729187-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156729187&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "METTL25B",
"hgnc_id": 24273,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_015997.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.2331,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7839590311050415,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "Y",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1428,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015997.4",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368216.9",
"protein_coding": true,
"protein_id": "NP_057081.3",
"strand": true,
"transcript": "NM_015997.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 475,
"aa_ref": "Y",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1428,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368216.9",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015997.4",
"protein_coding": true,
"protein_id": "ENSP00000357199.4",
"strand": true,
"transcript": "ENST00000368216.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 409,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": null,
"cds_end": null,
"cds_length": 1230,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001404.2",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.-463A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856893.1",
"strand": true,
"transcript": "XM_017001404.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047421937.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.-736A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277893.1",
"strand": true,
"transcript": "XM_047421937.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": null,
"cds_end": null,
"cds_length": 918,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047421943.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.-861A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277899.1",
"strand": true,
"transcript": "XM_047421943.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": null,
"cds_end": null,
"cds_length": 918,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047421944.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.-855A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277900.1",
"strand": true,
"transcript": "XM_047421944.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 459,
"aa_ref": "Y",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1380,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917461.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587520.1",
"strand": true,
"transcript": "ENST00000917461.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 456,
"aa_ref": "Y",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 395,
"cds_end": null,
"cds_length": 1371,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000892486.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562545.1",
"strand": true,
"transcript": "ENST00000892486.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 405,
"aa_ref": "Y",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1218,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000892484.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562543.1",
"strand": true,
"transcript": "ENST00000892484.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Y",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1047,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917460.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587519.1",
"strand": true,
"transcript": "ENST00000917460.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 344,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": 239,
"cds_end": null,
"cds_length": 1035,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000519086.5",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429756.1",
"strand": true,
"transcript": "ENST00000519086.5",
"transcript_support_level": 3
},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 706,
"cds_end": null,
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"cds_start": 83,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000892485.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562544.1",
"strand": true,
"transcript": "ENST00000892485.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 728,
"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
"exon_rank": 1,
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"feature": "ENST00000892483.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562542.1",
"strand": true,
"transcript": "ENST00000892483.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 678,
"cds_end": null,
"cds_length": 867,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917458.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587517.1",
"strand": true,
"transcript": "ENST00000917458.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 719,
"cds_end": null,
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"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001142560.2",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136032.1",
"strand": true,
"transcript": "NM_001142560.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 277,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 746,
"cds_end": null,
"cds_length": 834,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368218.8",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357201.4",
"strand": true,
"transcript": "ENST00000368218.8",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 201,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 973,
"cdna_start": 254,
"cds_end": null,
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"cds_start": 83,
"consequences": [
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],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917462.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587521.1",
"strand": true,
"transcript": "ENST00000917462.1",
"transcript_support_level": null
},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_start": 678,
"cds_end": null,
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"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917459.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587518.1",
"strand": true,
"transcript": "ENST00000917459.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 459,
"cdna_start": 228,
"cds_end": null,
"cds_length": 285,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000524343.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429389.1",
"strand": true,
"transcript": "ENST00000524343.1",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "Y",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1332,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005245234.6",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Tyr28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245291.1",
"strand": true,
"transcript": "XM_005245234.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 405,
"aa_ref": "Y",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1218,
"cds_start": 83,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005245235.6",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
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