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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: 15-75372158-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75372158&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75372158,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015477.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "NM_001145358.2",
"protein_id": "NP_001138830.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394947.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145358.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000394947.8",
"protein_id": "ENSP00000378402.3",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145358.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394947.8"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000360439.8",
"protein_id": "ENSP00000353622.4",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360439.8"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000394949.8",
"protein_id": "ENSP00000378403.4",
"transcript_support_level": 1,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394949.8"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3736G>C",
"hgvs_p": "p.Asp1246His",
"transcript": "ENST00000924394.1",
"protein_id": "ENSP00000594453.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3736,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924394.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3658G>C",
"hgvs_p": "p.Asp1220His",
"transcript": "ENST00000704310.1",
"protein_id": "ENSP00000515832.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3658,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704310.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "NM_001145357.2",
"protein_id": "NP_001138829.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145357.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "NM_001437462.1",
"protein_id": "NP_001424391.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437462.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "NM_001437463.1",
"protein_id": "NP_001424392.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437463.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "NM_015477.3",
"protein_id": "NP_056292.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015477.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000564778.6",
"protein_id": "ENSP00000455204.2",
"transcript_support_level": 2,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564778.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000565264.2",
"protein_id": "ENSP00000454296.2",
"transcript_support_level": 4,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565264.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000704312.1",
"protein_id": "ENSP00000515834.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704312.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000865500.1",
"protein_id": "ENSP00000535559.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865500.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000865504.1",
"protein_id": "ENSP00000535563.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865504.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000865505.1",
"protein_id": "ENSP00000535564.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865505.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000865506.1",
"protein_id": "ENSP00000535565.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865506.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000924387.1",
"protein_id": "ENSP00000594446.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924387.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000924389.1",
"protein_id": "ENSP00000594448.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924389.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000924390.1",
"protein_id": "ENSP00000594449.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924390.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His",
"transcript": "ENST00000962516.1",
"protein_id": "ENSP00000632575.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962516.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIN3A",
"gene_hgnc_id": 19353,
"hgvs_c": "c.3640G>C",
"hgvs_p": "p.Asp1214His",
"transcript": "ENST00000924392.1",
"protein_id": "ENSP00000594451.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1272,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35240358114242554,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015477.3",
"gene_symbol": "SIN3A",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.3643G>C",
"hgvs_p": "p.Asp1215His"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}