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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: 16-68346144-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68346144&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68346144,
"ref": "G",
"alt": "T",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000441236.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "NM_019023.5",
"protein_id": "NP_061896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": "ENST00000441236.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "ENST00000441236.3",
"protein_id": "ENSP00000409324.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": "NM_019023.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.1402-1G>T",
"hgvs_p": null,
"transcript": "ENST00000567542.5",
"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": 3542,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.24G>T",
"hgvs_p": null,
"transcript": "ENST00000566687.1",
"protein_id": null,
"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": 384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "NM_001351143.3",
"protein_id": "NP_001338072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "NM_001351144.3",
"protein_id": "NP_001338073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "ENST00000692632.1",
"protein_id": "ENSP00000510669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "NM_001290018.2",
"protein_id": "NP_001276947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "NM_001378018.1",
"protein_id": "NP_001364947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "ENST00000339507.9",
"protein_id": "ENSP00000343103.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "ENST00000687558.1",
"protein_id": "ENSP00000509003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "ENST00000692760.1",
"protein_id": "ENSP00000510748.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 692,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "ENST00000565745.6",
"protein_id": "ENSP00000456190.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 655,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
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"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
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"transcript": "ENST00000691804.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.906-1G>T",
"hgvs_p": null,
"transcript": "NM_001184824.4",
"protein_id": "NP_001171753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.906-1G>T",
"hgvs_p": null,
"transcript": "ENST00000449359.7",
"protein_id": "ENSP00000414716.3",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.849-1G>T",
"hgvs_p": null,
"transcript": "NM_001378020.1",
"protein_id": "NP_001364949.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1056-1G>T",
"hgvs_p": null,
"transcript": "ENST00000691961.1",
"protein_id": "ENSP00000510574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.819-1G>T",
"hgvs_p": null,
"transcript": "NM_001378021.1",
"protein_id": "NP_001364950.1",
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},
{
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.819-1G>T",
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"transcript": "NM_001378022.1",
"protein_id": "NP_001364951.1",
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},
{
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.819-1G>T",
"hgvs_p": null,
"transcript": "NM_001378023.1",
"protein_id": "NP_001364952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.762-1G>T",
"hgvs_p": null,
"transcript": "ENST00000691663.1",
"protein_id": "ENSP00000510167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
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"cds_length": 1785,
"cdna_start": null,
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"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
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],
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"computational_score_selected": -0.2199999988079071,
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"splice_prediction_selected": "Pathogenic",
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"bayesdelnoaf_score": -0.22,
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"phylop100way_score": 5.864,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.99,
"spliceai_max_prediction": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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{
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"verdict": "Pathogenic",
"transcript": "ENST00000441236.3",
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"effects": [
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],
"clinvar_disease": "Neurodevelopmental abnormality,PRMT7-related disorder,Short stature-brachydactyly-obesity-global developmental delay syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1 O:1",
"phenotype_combined": "Short stature-brachydactyly-obesity-global developmental delay syndrome|Neurodevelopmental abnormality|not provided|PRMT7-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}