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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: 7-7606175-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=7606175&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 7606175,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000340080.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "NM_019005.4",
"protein_id": "NP_061878.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": "ENST00000340080.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "ENST00000340080.9",
"protein_id": "ENSP00000339881.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": "NM_019005.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "n.1302+104A>T",
"hgvs_p": null,
"transcript": "ENST00000493227.1",
"protein_id": null,
"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": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "NM_001370076.1",
"protein_id": "NP_001357005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "NM_001370077.1",
"protein_id": "NP_001357006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "NM_001370080.1",
"protein_id": "NP_001357009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "ENST00000405785.5",
"protein_id": "ENSP00000384088.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2219+104A>T",
"hgvs_p": null,
"transcript": "NM_001370078.1",
"protein_id": "NP_001357007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": -4,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "n.954+104A>T",
"hgvs_p": null,
"transcript": "ENST00000479694.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293795",
"gene_hgnc_id": null,
"hgvs_c": "n.150+1018T>A",
"hgvs_p": null,
"transcript": "ENST00000719086.1",
"protein_id": null,
"transcript_support_level": null,
"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": 467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "n.2950+104A>T",
"hgvs_p": null,
"transcript": "NR_163250.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "XM_047420507.1",
"protein_id": "XP_047276463.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 875,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "XM_047420508.1",
"protein_id": "XP_047276464.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "XM_047420509.1",
"protein_id": "XP_047276465.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "XM_047420510.1",
"protein_id": "XP_047276466.1",
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "XM_047420511.1",
"protein_id": "XP_047276467.1",
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},
{
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],
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"gene_symbol": "MIOS",
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"hgvs_c": "c.2531+104A>T",
"hgvs_p": null,
"transcript": "XM_047420512.1",
"protein_id": "XP_047276468.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2219+104A>T",
"hgvs_p": null,
"transcript": "XM_047420513.1",
"protein_id": "XP_047276469.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.2219+104A>T",
"hgvs_p": null,
"transcript": "XM_047420514.1",
"protein_id": "XP_047276470.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "MIOS",
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"hgvs_c": "c.2219+104A>T",
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"transcript": "XM_047420515.1",
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},
{
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"strand": true,
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],
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"intron_rank": 8,
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"gene_symbol": "MIOS",
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"hgvs_c": "c.2219+104A>T",
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"transcript": "XM_047420516.1",
"protein_id": "XP_047276472.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.1145+104A>T",
"hgvs_p": null,
"transcript": "XM_047420521.1",
"protein_id": "XP_047276477.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MIOS",
"gene_hgnc_id": 21905,
"hgvs_c": "c.1145+104A>T",
"hgvs_p": null,
"transcript": "XM_047420522.1",
"protein_id": "XP_047276478.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "MIOS",
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"hgvs_c": "c.1145+104A>T",
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"transcript": "XM_047420523.1",
"protein_id": "XP_047276479.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": -4,
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"cds_length": 1242,
"cdna_start": null,
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"feature": null
}
],
"gene_symbol": "MIOS",
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"dbsnp": "rs2286209",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.156,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000340080.9",
"gene_symbol": "MIOS",
"hgnc_id": 21905,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2531+104A>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000719086.1",
"gene_symbol": "ENSG00000293795",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.150+1018T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}