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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: 13-25249479-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=25249479&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 25249479,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385230.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "NM_004685.5",
"protein_id": "NP_004676.3",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 621,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381801.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004685.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "ENST00000381801.6",
"protein_id": "ENSP00000371221.5",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 621,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004685.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381801.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578His",
"transcript": "NM_001385230.1",
"protein_id": "NP_001372159.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 659,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385230.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578His",
"transcript": "ENST00000482345.2",
"protein_id": "ENSP00000516657.1",
"transcript_support_level": 5,
"aa_start": 578,
"aa_end": null,
"aa_length": 659,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482345.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544His",
"transcript": "ENST00000956555.1",
"protein_id": "ENSP00000626614.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 625,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956555.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1622G>A",
"hgvs_p": "p.Arg541His",
"transcript": "ENST00000956554.1",
"protein_id": "ENSP00000626613.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 622,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956554.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Arg522His",
"transcript": "NM_001385231.1",
"protein_id": "NP_001372160.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 603,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385231.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Arg522His",
"transcript": "ENST00000876356.1",
"protein_id": "ENSP00000546415.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 603,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876356.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Arg516His",
"transcript": "ENST00000876357.1",
"protein_id": "ENSP00000546416.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 597,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876357.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498His",
"transcript": "NM_001385232.1",
"protein_id": "NP_001372161.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 579,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385232.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "NM_001385233.1",
"protein_id": "NP_001372162.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 578,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385233.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "ENST00000876358.1",
"protein_id": "ENSP00000546417.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 578,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876358.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495His",
"transcript": "NM_001385234.1",
"protein_id": "NP_001372163.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 576,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385234.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495His",
"transcript": "ENST00000876355.1",
"protein_id": "ENSP00000546414.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 576,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876355.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481His",
"transcript": "NM_001385235.1",
"protein_id": "NP_001372164.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 562,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385235.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481His",
"transcript": "ENST00000876354.1",
"protein_id": "ENSP00000546413.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 562,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876354.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Ala498Thr",
"transcript": "NM_001385236.1",
"protein_id": "NP_001372165.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 535,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385236.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Ala453Thr",
"transcript": "NM_001385237.1",
"protein_id": "NP_001372166.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 490,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385237.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Ala362Thr",
"transcript": "NM_001385238.1",
"protein_id": "NP_001372167.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 399,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385238.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1606G>A",
"hgvs_p": "p.Ala536Thr",
"transcript": "XM_011535307.2",
"protein_id": "XP_011533609.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 573,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535307.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345His",
"transcript": "XM_017020846.2",
"protein_id": "XP_016876335.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 426,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020846.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"hgvs_c": "n.1733G>A",
"hgvs_p": null,
"transcript": "NR_169592.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169592.1"
}
],
"gene_symbol": "MTMR6",
"gene_hgnc_id": 7453,
"dbsnp": "rs772892485",
"frequency_reference_population": 0.000024819901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000246641,
"gnomad_genomes_af": 0.0000263158,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.035877734422683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.0633,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.092,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001385230.1",
"gene_symbol": "MTMR6",
"hgnc_id": 7453,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}