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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: 2-214728677-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=214728677&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 214728677,
"ref": "C",
"alt": "T",
"effect": "stop_retained_variant",
"transcript": "ENST00000260947.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.*999G>A",
"hgvs_p": null,
"transcript": "ENST00000620057.4",
"protein_id": "ENSP00000481988.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2333G>A",
"hgvs_p": "p.Ter778Ter",
"transcript": "NM_000465.4",
"protein_id": "NP_000456.2",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 777,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": "ENST00000260947.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2333G>A",
"hgvs_p": "p.Ter778Ter",
"transcript": "ENST00000260947.9",
"protein_id": "ENSP00000260947.4",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 777,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": "NM_000465.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Ter759Ter",
"transcript": "ENST00000617164.5",
"protein_id": "ENSP00000480470.1",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 758,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1925G>A",
"hgvs_p": "p.Ter642Ter",
"transcript": "ENST00000613706.5",
"protein_id": "ENSP00000484976.2",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 641,
"cds_start": 1925,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Ter308Ter",
"transcript": "ENST00000613374.5",
"protein_id": "ENSP00000484464.1",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 307,
"cds_start": 923,
"cds_end": null,
"cds_length": 924,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Ter265Ter",
"transcript": "ENST00000619009.5",
"protein_id": "ENSP00000482293.1",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 264,
"cds_start": 794,
"cds_end": null,
"cds_length": 795,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.668G>A",
"hgvs_p": null,
"transcript": "ENST00000471590.5",
"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": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*396G>A",
"hgvs_p": null,
"transcript": "ENST00000613192.2",
"protein_id": "ENSP00000483275.2",
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.*999G>A",
"hgvs_p": null,
"transcript": "ENST00000620057.4",
"protein_id": "ENSP00000481988.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*396G>A",
"hgvs_p": null,
"transcript": "ENST00000613192.2",
"protein_id": "ENSP00000483275.2",
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Ter759Ter",
"transcript": "NM_001282543.2",
"protein_id": "NP_001269472.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 758,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Ter327Ter",
"transcript": "NM_001282545.2",
"protein_id": "NP_001269474.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 326,
"cds_start": 980,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"stop_retained_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Ter327Ter",
"transcript": "ENST00000421162.2",
"protein_id": "ENSP00000392245.2",
"transcript_support_level": 3,
"aa_start": 327,
"aa_end": null,
"aa_length": 326,
"cds_start": 980,
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"cdna_start": 1008,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "*",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Ter308Ter",
"transcript": "NM_001282548.2",
"protein_id": "NP_001269477.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 307,
"cds_start": 923,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Ter265Ter",
"transcript": "NM_001282549.2",
"protein_id": "NP_001269478.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
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"cds_start": 794,
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"cdna_start": 908,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Ter811Ter",
"transcript": "XM_017004613.2",
"protein_id": "XP_016860102.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 810,
"cds_start": 2432,
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"cdna_start": 2546,
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"cdna_length": 5577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*2411G>A",
"hgvs_p": null,
"transcript": "ENST00000650978.1",
"protein_id": "ENSP00000498880.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.2298G>A",
"hgvs_p": null,
"transcript": "NR_104212.2",
"protein_id": null,
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.2241G>A",
"hgvs_p": null,
"transcript": "NR_104215.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.1497G>A",
"hgvs_p": null,
"transcript": "NR_104216.2",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.*342G>A",
"hgvs_p": null,
"transcript": "ENST00000432456.5",
"protein_id": "ENSP00000405020.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*2411G>A",
"hgvs_p": null,
"transcript": "ENST00000650978.1",
"protein_id": "ENSP00000498880.1",
"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": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*1953G>A",
"hgvs_p": null,
"transcript": "ENST00000455743.5",
"protein_id": "ENSP00000412186.1",
"transcript_support_level": 5,
"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": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"dbsnp": "rs776958611",
"frequency_reference_population": 0.000014366361,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000143664,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"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": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.329,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000260947.9",
"gene_symbol": "BARD1",
"hgnc_id": 952,
"effects": [
"stop_retained_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2333G>A",
"hgvs_p": "p.Ter778Ter"
}
],
"clinvar_disease": "Familial cancer of breast,Hereditary cancer-predisposing syndrome,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|not specified|Familial cancer of breast",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}