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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: 3-9684627-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9684627&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9684627,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000296003.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Gln",
"transcript": "NM_001077525.3",
"protein_id": "NP_001070993.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 650,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": "ENST00000296003.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Gln",
"transcript": "ENST00000296003.9",
"protein_id": "ENSP00000296003.5",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 650,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": "NM_001077525.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Gln",
"transcript": "ENST00000353332.9",
"protein_id": "ENSP00000323462.8",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 598,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Gln",
"transcript": "ENST00000351233.9",
"protein_id": "ENSP00000334070.7",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 538,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "n.*364G>A",
"hgvs_p": null,
"transcript": "ENST00000414996.1",
"protein_id": "ENSP00000392935.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "n.*364G>A",
"hgvs_p": null,
"transcript": "ENST00000414996.1",
"protein_id": "ENSP00000392935.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"transcript": "NM_001400518.1",
"protein_id": "NP_001387447.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 673,
"cds_start": 1076,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"transcript": "NM_001400519.1",
"protein_id": "NP_001387448.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 649,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001400520.1",
"protein_id": "NP_001387449.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 625,
"cds_start": 932,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359Gln",
"transcript": "NM_001400521.1",
"protein_id": "NP_001387450.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 621,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Gln",
"transcript": "NM_001077526.3",
"protein_id": "NP_001070994.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 598,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"transcript": "NM_001400522.1",
"protein_id": "NP_001387451.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 597,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001400523.1",
"protein_id": "NP_001387452.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 573,
"cds_start": 932,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"transcript": "NM_001400524.1",
"protein_id": "NP_001387453.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 568,
"cds_start": 761,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"transcript": "NM_001400525.1",
"protein_id": "NP_001387454.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 556,
"cds_start": 725,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336Gln",
"transcript": "NM_022485.5",
"protein_id": "NP_071930.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 538,
"cds_start": 1007,
"cds_end": null,
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"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.1001G>A",
"hgvs_p": "p.Arg334Gln",
"transcript": "NM_001400526.1",
"protein_id": "NP_001387455.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 536,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"transcript": "NM_001400527.1",
"protein_id": "NP_001387456.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 516,
"cds_start": 761,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001400528.1",
"protein_id": "NP_001387457.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 513,
"cds_start": 932,
"cds_end": null,
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"cdna_start": 1011,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"transcript": "NM_001400529.1",
"protein_id": "NP_001387458.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 504,
"cds_start": 725,
"cds_end": null,
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"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"transcript": "NM_001400530.1",
"protein_id": "NP_001387459.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 456,
"cds_start": 761,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "NM_001400531.1",
"protein_id": "NP_001387460.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 455,
"cds_start": 758,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR14",
"gene_hgnc_id": 26190,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"transcript": "NM_001400532.1",
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{
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],
"clinvar_disease": " AUTOSOMAL DOMINANT, CENTRONUCLEAR, MODIFIER OF,MYOPATHY,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}