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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: 11-61770260-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61770260&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61770260,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001127392.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "NM_001127392.3",
"protein_id": "NP_001120864.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1151,
"cds_start": 475,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278836.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127392.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000278836.10",
"protein_id": "ENSP00000278836.4",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 1151,
"cds_start": 475,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127392.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278836.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Arg150Cys",
"transcript": "ENST00000265460.9",
"protein_id": "ENSP00000265460.5",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 1111,
"cds_start": 448,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265460.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000856811.1",
"protein_id": "ENSP00000526870.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1152,
"cds_start": 475,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856811.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000856806.1",
"protein_id": "ENSP00000526865.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1147,
"cds_start": 475,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856806.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000856800.1",
"protein_id": "ENSP00000526859.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1146,
"cds_start": 475,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856800.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000856799.1",
"protein_id": "ENSP00000526858.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1125,
"cds_start": 475,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856799.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000856812.1",
"protein_id": "ENSP00000526871.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1124,
"cds_start": 475,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856812.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000856803.1",
"protein_id": "ENSP00000526862.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1120,
"cds_start": 475,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856803.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000856801.1",
"protein_id": "ENSP00000526860.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1119,
"cds_start": 475,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856801.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Arg150Cys",
"transcript": "NM_013279.4",
"protein_id": "NP_037411.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1111,
"cds_start": 448,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013279.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000856810.1",
"protein_id": "ENSP00000526869.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1109,
"cds_start": 475,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856810.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "ENST00000918479.1",
"protein_id": "ENSP00000588538.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1108,
"cds_start": 475,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918479.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "XM_005274222.2",
"protein_id": "XP_005274279.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1152,
"cds_start": 475,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274222.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "XM_005274223.2",
"protein_id": "XP_005274280.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1147,
"cds_start": 475,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274223.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "XM_005274224.2",
"protein_id": "XP_005274281.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1146,
"cds_start": 475,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274224.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "XM_005274225.2",
"protein_id": "XP_005274282.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1125,
"cds_start": 475,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274225.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "XM_005274226.2",
"protein_id": "XP_005274283.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1124,
"cds_start": 475,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274226.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "XM_005274227.2",
"protein_id": "XP_005274284.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1120,
"cds_start": 475,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274227.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys",
"transcript": "XM_047427526.1",
"protein_id": "XP_047283482.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1119,
"cds_start": 475,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427526.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94Cys",
"transcript": "XM_047427530.1",
"protein_id": "XP_047283486.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1081,
"cds_start": 280,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427530.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94Cys",
"transcript": "XM_047427535.1",
"protein_id": "XP_047283491.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 1055,
"cds_start": 280,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM258",
"gene_hgnc_id": 1164,
"hgvs_c": "n.649-1487G>A",
"hgvs_p": null,
"transcript": "ENST00000535042.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000535042.1"
}
],
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"dbsnp": "rs779540387",
"frequency_reference_population": 0.00003732541,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000405387,
"gnomad_genomes_af": 0.00000657531,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47804582118988037,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.261,
"revel_prediction": "Benign",
"alphamissense_score": 0.3263,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.129,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001127392.3",
"gene_symbol": "MYRF",
"hgnc_id": 1181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Cys"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000535042.1",
"gene_symbol": "TMEM258",
"hgnc_id": 1164,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.649-1487G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}