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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: 18-50273809-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50273809&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MBD1",
"hgnc_id": 6916,
"hgvs_c": "c.1276C>G",
"hgvs_p": "p.Pro426Ala",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001323942.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_score": -13,
"allele_count_reference_population": 322147,
"alphamissense_prediction": null,
"alphamissense_score": 0.0644,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "18",
"clinvar_classification": "Benign",
"clinvar_disease": "MBD1-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0013392269611358643,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 605,
"aa_ref": "P",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_015846.4",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1201C>G",
"hgvs_p": "p.Pro401Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269468.10",
"protein_coding": true,
"protein_id": "NP_056671.2",
"strand": false,
"transcript": "NM_015846.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 605,
"aa_ref": "P",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000269468.10",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1201C>G",
"hgvs_p": "p.Pro401Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015846.4",
"protein_coding": true,
"protein_id": "ENSP00000269468.5",
"strand": false,
"transcript": "ENST00000269468.10",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 655,
"aa_ref": "P",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000590208.5",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1201C>G",
"hgvs_p": "p.Pro401Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468785.1",
"strand": false,
"transcript": "ENST00000590208.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000588937.5",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1132C>G",
"hgvs_p": "p.Pro378Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467763.1",
"strand": false,
"transcript": "ENST00000588937.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000585672.5",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1051C>G",
"hgvs_p": "p.Pro351Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466092.1",
"strand": false,
"transcript": "ENST00000585672.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 556,
"aa_ref": "P",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000353909.7",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1054C>G",
"hgvs_p": "p.Pro352Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000269469.5",
"strand": false,
"transcript": "ENST00000353909.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 550,
"aa_ref": "P",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000339998.10",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1201C>G",
"hgvs_p": "p.Pro401Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339546.5",
"strand": false,
"transcript": "ENST00000339998.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 549,
"aa_ref": "P",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000347968.7",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Pro345Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000285102.5",
"strand": false,
"transcript": "ENST00000347968.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000591535.5",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1132C>G",
"hgvs_p": "p.Pro378Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465923.1",
"strand": false,
"transcript": "ENST00000591535.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000398488.5",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Pro345Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381502.1",
"strand": false,
"transcript": "ENST00000398488.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 415,
"aa_ref": "P",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 735,
"cds_end": null,
"cds_length": 1248,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000592060.5",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.733C>G",
"hgvs_p": "p.Pro245Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467606.1",
"strand": false,
"transcript": "ENST00000592060.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
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"aa_length": 680,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001323942.2",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1276C>G",
"hgvs_p": "p.Pro426Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310871.1",
"strand": false,
"transcript": "NM_001323942.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000705655.1",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1276C>G",
"hgvs_p": "p.Pro426Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516153.1",
"strand": false,
"transcript": "ENST00000705655.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001323947.2",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1276C>G",
"hgvs_p": "p.Pro426Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310876.1",
"strand": false,
"transcript": "NM_001323947.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001388145.1",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1276C>G",
"hgvs_p": "p.Pro426Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375074.1",
"strand": false,
"transcript": "NM_001388145.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 657,
"aa_ref": "P",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001399879.1",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Pro403Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001386808.1",
"strand": false,
"transcript": "NM_001399879.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 656,
"aa_ref": "P",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001399880.1",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1354C>G",
"hgvs_p": "p.Pro452Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001386809.1",
"strand": false,
"transcript": "NM_001399880.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 655,
"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001204136.2",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1201C>G",
"hgvs_p": "p.Pro401Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191065.1",
"strand": false,
"transcript": "NM_001204136.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001399881.1",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1198C>G",
"hgvs_p": "p.Pro400Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001386810.1",
"strand": false,
"transcript": "NM_001399881.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 651,
"aa_ref": "P",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001399882.1",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1201C>G",
"hgvs_p": "p.Pro401Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001386811.1",
"strand": false,
"transcript": "NM_001399882.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 647,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001388146.1",
"gene_hgnc_id": 6916,
"gene_symbol": "MBD1",
"hgvs_c": "c.1276C>G",
"hgvs_p": "p.Pro426Ala",
"intron_rank": null,
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