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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: 8-116852713-TAAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=116852713&ref=TAAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "RAD21",
"hgnc_id": 9811,
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006265.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006265.3",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297338.7",
"protein_coding": true,
"protein_id": "NP_006256.1",
"strand": false,
"transcript": "NM_006265.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000297338.7",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006265.3",
"protein_coding": true,
"protein_id": "ENSP00000297338.2",
"strand": false,
"transcript": "ENST00000297338.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3596,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517749.2",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430273.2",
"strand": false,
"transcript": "ENST00000517749.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517485.6",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427923.2",
"strand": false,
"transcript": "ENST00000517485.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519837.6",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430524.2",
"strand": false,
"transcript": "ENST00000519837.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520992.6",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429342.2",
"strand": false,
"transcript": "ENST00000520992.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000522699.2",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428158.2",
"strand": false,
"transcript": "ENST00000522699.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687358.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509687.1",
"strand": false,
"transcript": "ENST00000687358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900009.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570068.1",
"strand": false,
"transcript": "ENST00000900009.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900010.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570069.1",
"strand": false,
"transcript": "ENST00000900010.1",
"transcript_support_level": null
},
{
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"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927340.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597399.1",
"strand": false,
"transcript": "ENST00000927340.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958519.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628578.1",
"strand": false,
"transcript": "ENST00000958519.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
"cdna_length": 3727,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927337.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597396.1",
"strand": false,
"transcript": "ENST00000927337.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3679,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927338.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1156-8_1156-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597397.1",
"strand": false,
"transcript": "ENST00000927338.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3595,
"cdna_start": null,
"cds_end": null,
"cds_length": 1887,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958517.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628576.1",
"strand": false,
"transcript": "ENST00000958517.1",
"transcript_support_level": null
},
{
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"aa_length": 603,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3608,
"cdna_start": null,
"cds_end": null,
"cds_length": 1812,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900008.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570067.1",
"strand": false,
"transcript": "ENST00000900008.1",
"transcript_support_level": null
},
{
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"aa_length": 603,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": null,
"cds_end": null,
"cds_length": 1812,
"cds_start": null,
"consequences": [
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"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000900011.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1162-8_1162-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570070.1",
"strand": false,
"transcript": "ENST00000900011.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 1797,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927341.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1063-8_1063-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597400.1",
"strand": false,
"transcript": "ENST00000927341.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": null,
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"cds_length": 1797,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958518.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.1063-8_1063-6delTTT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628577.1",
"strand": false,
"transcript": "ENST00000958518.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 186,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": null,
"cds_end": null,
"cds_length": 561,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927339.1",
"gene_hgnc_id": 9811,
"gene_symbol": "RAD21",
"hgvs_c": "c.145-1958_145-1956delTTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597398.1",
"strand": false,
"transcript": "ENST00000927339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 111,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": null,
"cds_end": null,
"cds_length": 336,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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