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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: 11-95847762-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95847762&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95847762,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000346299.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Thr377Thr",
"transcript": "NM_016156.6",
"protein_id": "NP_057240.3",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 643,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "ENST00000346299.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Thr377Thr",
"transcript": "ENST00000346299.10",
"protein_id": "ENSP00000345752.6",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 643,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "NM_016156.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "ENST00000352297.11",
"protein_id": "ENSP00000343737.7",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "ENST00000393223.8",
"protein_id": "ENSP00000376915.3",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1047C>T",
"hgvs_p": "p.Thr349Thr",
"transcript": "NM_001440647.1",
"protein_id": "NP_001427576.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 615,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Thr377Thr",
"transcript": "NM_001440648.1",
"protein_id": "NP_001427577.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 612,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Thr315Thr",
"transcript": "NM_001440649.1",
"protein_id": "NP_001427578.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 581,
"cds_start": 945,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Thr315Thr",
"transcript": "ENST00000675022.1",
"protein_id": "ENSP00000502722.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 581,
"cds_start": 945,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 4323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Thr314Thr",
"transcript": "NM_001440651.1",
"protein_id": "NP_001427580.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 580,
"cds_start": 942,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001243571.2",
"protein_id": "NP_001230500.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001440630.1",
"protein_id": "NP_001427559.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001440631.1",
"protein_id": "NP_001427560.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001440632.1",
"protein_id": "NP_001427561.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001440633.1",
"protein_id": "NP_001427562.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
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"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001440634.1",
"protein_id": "NP_001427563.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001440635.1",
"protein_id": "NP_001427564.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
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"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001440636.1",
"protein_id": "NP_001427565.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_001440637.1",
"protein_id": "NP_001427566.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_201278.3",
"protein_id": "NP_958435.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
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"cdna_start": 1478,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "NM_201281.3",
"protein_id": "NP_958438.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
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"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "ENST00000409459.5",
"protein_id": "ENSP00000386882.1",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "ENST00000444541.7",
"protein_id": "ENSP00000396020.2",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 571,
"cds_start": 915,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
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"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000346299.10",
"gene_symbol": "MTMR2",
"hgnc_id": 7450,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Thr377Thr"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease type 4B1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1|Charcot-Marie-Tooth disease|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}