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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: 7-157367410-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157367410&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 157367410,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000262177.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "NM_058246.4",
"protein_id": "NP_490647.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 326,
"cds_start": 273,
"cds_end": null,
"cds_length": 981,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": "ENST00000262177.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000262177.9",
"protein_id": "ENSP00000262177.4",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 326,
"cds_start": 273,
"cds_end": null,
"cds_length": 981,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": "NM_058246.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000429029.6",
"protein_id": "ENSP00000397556.2",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 241,
"cds_start": 273,
"cds_end": null,
"cds_length": 726,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1609,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.273C>G",
"hgvs_p": null,
"transcript": "ENST00000459889.5",
"protein_id": "ENSP00000488263.1",
"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": 7992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000634080.1",
"protein_id": "ENSP00000488740.1",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 334,
"cds_start": 273,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "NM_005494.3",
"protein_id": "NP_005485.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 241,
"cds_start": 273,
"cds_end": null,
"cds_length": 726,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000417758.5",
"protein_id": "ENSP00000400665.1",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 227,
"cds_start": 273,
"cds_end": null,
"cds_length": 685,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "NM_001363676.1",
"protein_id": "NP_001350605.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 211,
"cds_start": 273,
"cds_end": null,
"cds_length": 636,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000443280.5",
"protein_id": "ENSP00000396267.1",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 211,
"cds_start": 273,
"cds_end": null,
"cds_length": 636,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000441561.5",
"protein_id": "ENSP00000410643.1",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 144,
"cds_start": 273,
"cds_end": null,
"cds_length": 437,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000412557.5",
"protein_id": "ENSP00000403407.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 124,
"cds_start": 273,
"cds_end": null,
"cds_length": 376,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000453383.5",
"protein_id": "ENSP00000396240.1",
"transcript_support_level": 4,
"aa_start": 91,
"aa_end": null,
"aa_length": 97,
"cds_start": 273,
"cds_end": null,
"cds_length": 295,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "XM_005249515.4",
"protein_id": "XP_005249572.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 334,
"cds_start": 273,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 5750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "XM_005249516.3",
"protein_id": "XP_005249573.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 334,
"cds_start": 273,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "XM_011515704.2",
"protein_id": "XP_011514006.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 334,
"cds_start": 273,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "XM_047419695.1",
"protein_id": "XP_047275651.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 334,
"cds_start": 273,
"cds_end": null,
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"cdna_start": 442,
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"cdna_length": 5753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "XM_047419696.1",
"protein_id": "XP_047275652.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 326,
"cds_start": 273,
"cds_end": null,
"cds_length": 981,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "XM_047419697.1",
"protein_id": "XP_047275653.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 326,
"cds_start": 273,
"cds_end": null,
"cds_length": 981,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "XM_047419698.1",
"protein_id": "XP_047275654.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 326,
"cds_start": 273,
"cds_end": null,
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"cdna_start": 557,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu",
"transcript": "XM_006715823.3",
"protein_id": "XP_006715886.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 257,
"cds_start": 273,
"cds_end": null,
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"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2282,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.273C>G",
"hgvs_p": null,
"transcript": "ENST00000441291.5",
"protein_id": "ENSP00000415201.1",
"transcript_support_level": 3,
"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": 614,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.440C>G",
"hgvs_p": null,
"transcript": "ENST00000486083.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 699,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.419C>G",
"hgvs_p": null,
"transcript": "ENST00000488001.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"dbsnp": "rs759982570",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.494430810213089,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.552,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.532,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 22,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM2,PM5,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 22,
"benign_score": 0,
"pathogenic_score": 22,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM2",
"PM5",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262177.9",
"gene_symbol": "DNAJB6",
"hgnc_id": 14888,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.273C>G",
"hgvs_p": "p.Phe91Leu"
}
],
"clinvar_disease": "Abnormality of the musculature,Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6),not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)|not provided|Abnormality of the musculature",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}