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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: 1-156732424-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156732424&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "METTL25B",
"hgnc_id": 24273,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_015997.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 1043,
"alphamissense_prediction": null,
"alphamissense_score": 0.4135,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"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": "Benign",
"computational_score_selected": 0.026885181665420532,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1428,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_015997.4",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1428,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368216.9",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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": "Q",
"aa_end": null,
"aa_length": 459,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1380,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000917461.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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": "Q",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1371,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892486.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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": "Q",
"aa_end": null,
"aa_length": 405,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1218,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000892484.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"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": "Q",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1035,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000519086.5",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 309,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 930,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892485.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562544.1",
"strand": true,
"transcript": "ENST00000892485.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 290,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 873,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892483.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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": "Q",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 969,
"cds_end": null,
"cds_length": 867,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000917458.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Arg125Gln",
"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": "Q",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 834,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001142560.2",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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": "Q",
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"aa_length": 277,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 834,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368218.8",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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": "Q",
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"aa_length": 154,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"cdna_start": 400,
"cds_end": null,
"cds_length": 465,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000476229.5",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430787.1",
"strand": true,
"transcript": "ENST00000476229.5",
"transcript_support_level": 5
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 416,
"cdna_start": 40,
"cds_end": null,
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"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000522237.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429800.1",
"strand": true,
"transcript": "ENST00000522237.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 99,
"aa_ref": "R",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 709,
"cdna_start": 481,
"cds_end": null,
"cds_length": 302,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000484742.5",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429053.1",
"strand": true,
"transcript": "ENST00000484742.5",
"transcript_support_level": 3
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1016,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005245234.6",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"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": "Q",
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"aa_length": 409,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 360,
"cds_end": null,
"cds_length": 1230,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011509600.2",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Arg61Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507902.1",
"strand": true,
"transcript": "XM_011509600.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 409,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1230,
"cds_start": 182,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017001404.2",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Arg61Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016856893.1",
"strand": true,
"transcript": "XM_017001404.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 806,
"cds_end": null,
"cds_length": 1218,
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"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005245235.6",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245292.1",
"strand": true,
"transcript": "XM_005245235.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1016,
"cds_end": null,
"cds_length": 1122,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047421932.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277888.1",
"strand": true,
"transcript": "XM_047421932.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 341,
"aa_ref": "R",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1026,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047421937.1",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"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": "Q",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 987,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005245236.6",
"gene_hgnc_id": 24273,
"gene_symbol": "METTL25B",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
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