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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: X-129465519-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=129465519&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 129465519,
"ref": "C",
"alt": "G",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001282874.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "NM_001282874.2",
"protein_id": "NP_001269803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": "ENST00000371121.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282874.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "ENST00000371121.5",
"protein_id": "ENSP00000360162.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": "NM_001282874.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371121.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2994+1G>C",
"hgvs_p": null,
"transcript": "ENST00000371123.5",
"protein_id": "ENSP00000360164.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": null,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "ENST00000371122.8",
"protein_id": "ENSP00000360163.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": null,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371122.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3051+1G>C",
"hgvs_p": null,
"transcript": "ENST00000950304.1",
"protein_id": "ENSP00000620363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1077,
"cds_start": null,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "ENST00000931469.1",
"protein_id": "ENSP00000601528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931469.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "ENST00000950302.1",
"protein_id": "ENSP00000620361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "ENST00000950303.1",
"protein_id": "ENSP00000620362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "ENST00000856438.1",
"protein_id": "ENSP00000526497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856438.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2994+1G>C",
"hgvs_p": null,
"transcript": "NM_001282875.2",
"protein_id": "NP_001269804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": null,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282875.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2994+1G>C",
"hgvs_p": null,
"transcript": "ENST00000950301.1",
"protein_id": "ENSP00000620360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": null,
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"cds_length": 3177,
"cdna_start": null,
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"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950301.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "NM_003069.5",
"protein_id": "NP_003060.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": null,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
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"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003069.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.3030+1G>C",
"hgvs_p": null,
"transcript": "NM_001378261.1",
"protein_id": "NP_001365190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001378261.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2994+1G>C",
"hgvs_p": null,
"transcript": "NM_001378262.1",
"protein_id": "NP_001365191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2994+1G>C",
"hgvs_p": null,
"transcript": "NM_001378263.1",
"protein_id": "NP_001365192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378263.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2943+1G>C",
"hgvs_p": null,
"transcript": "ENST00000931472.1",
"protein_id": "ENSP00000601531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1041,
"cds_start": null,
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"cds_length": 3126,
"cdna_start": null,
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"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2994+1G>C",
"hgvs_p": null,
"transcript": "NM_001378264.1",
"protein_id": "NP_001365193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1036,
"cds_start": null,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2925+1G>C",
"hgvs_p": null,
"transcript": "ENST00000931471.1",
"protein_id": "ENSP00000601530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000931471.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2919+1G>C",
"hgvs_p": null,
"transcript": "ENST00000950305.1",
"protein_id": "ENSP00000620364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3882,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000950305.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2907+1G>C",
"hgvs_p": null,
"transcript": "ENST00000931470.1",
"protein_id": "ENSP00000601529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1029,
"cds_start": null,
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"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
"gene_hgnc_id": 11097,
"hgvs_c": "c.2898+1G>C",
"hgvs_p": null,
"transcript": "ENST00000856442.1",
"protein_id": "ENSP00000526501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": null,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SMARCA1",
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}