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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: 11-95836284-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95836284&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95836284,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000346299.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1634A>G",
"hgvs_p": "p.Asn545Ser",
"transcript": "NM_016156.6",
"protein_id": "NP_057240.3",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 643,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "ENST00000346299.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1634A>G",
"hgvs_p": "p.Asn545Ser",
"transcript": "ENST00000346299.10",
"protein_id": "ENSP00000345752.6",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 643,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "NM_016156.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "ENST00000352297.11",
"protein_id": "ENSP00000343737.7",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "ENST00000393223.8",
"protein_id": "ENSP00000376915.3",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Asn517Ser",
"transcript": "NM_001440647.1",
"protein_id": "NP_001427576.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 615,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1541A>G",
"hgvs_p": "p.Asn514Ser",
"transcript": "NM_001440648.1",
"protein_id": "NP_001427577.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 612,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asn483Ser",
"transcript": "NM_001440649.1",
"protein_id": "NP_001427578.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 581,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asn483Ser",
"transcript": "NM_001440650.1",
"protein_id": "NP_001427579.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 581,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asn483Ser",
"transcript": "ENST00000675022.1",
"protein_id": "ENSP00000502722.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 581,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 4323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1445A>G",
"hgvs_p": "p.Asn482Ser",
"transcript": "NM_001440651.1",
"protein_id": "NP_001427580.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 580,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001243571.2",
"protein_id": "NP_001230500.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001440630.1",
"protein_id": "NP_001427559.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001440631.1",
"protein_id": "NP_001427560.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001440632.1",
"protein_id": "NP_001427561.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001440633.1",
"protein_id": "NP_001427562.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001440634.1",
"protein_id": "NP_001427563.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001440635.1",
"protein_id": "NP_001427564.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001440636.1",
"protein_id": "NP_001427565.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_001440637.1",
"protein_id": "NP_001427566.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_201278.3",
"protein_id": "NP_958435.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "NM_201281.3",
"protein_id": "NP_958438.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1418A>G",
"hgvs_p": "p.Asn473Ser",
"transcript": "ENST00000409459.5",
"protein_id": "ENSP00000386882.1",
"transcript_support_level": 5,
"aa_start": 473,
"aa_end": null,
"aa_length": 571,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
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"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000346299.10",
"gene_symbol": "MTMR2",
"hgnc_id": 7450,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1634A>G",
"hgvs_p": "p.Asn545Ser"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease type 4B1,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:6",
"phenotype_combined": "not specified|Charcot-Marie-Tooth disease type 4|not provided|Charcot-Marie-Tooth disease type 4B1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}