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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: 4-182894535-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=182894535&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 182894535,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000438320.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "NM_001921.3",
"protein_id": "NP_001912.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": "ENST00000438320.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "ENST00000438320.7",
"protein_id": "ENSP00000398194.2",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": "NM_001921.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.348T>G",
"hgvs_p": "p.Val116Val",
"transcript": "ENST00000357067.7",
"protein_id": "ENSP00000349576.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 189,
"cds_start": 348,
"cds_end": null,
"cds_length": 570,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1931,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.*53T>G",
"hgvs_p": null,
"transcript": "ENST00000507631.5",
"protein_id": "ENSP00000425287.1",
"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": 879,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.*53T>G",
"hgvs_p": null,
"transcript": "ENST00000507631.5",
"protein_id": "ENSP00000425287.1",
"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": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.348T>G",
"hgvs_p": "p.Val116Val",
"transcript": "NM_001012732.2",
"protein_id": "NP_001012750.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 189,
"cds_start": 348,
"cds_end": null,
"cds_length": 570,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "NM_001351743.2",
"protein_id": "NP_001338672.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "NM_001351744.2",
"protein_id": "NP_001338673.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "NM_001351745.2",
"protein_id": "NP_001338674.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "NM_001351747.2",
"protein_id": "NP_001338676.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "NM_001351748.2",
"protein_id": "NP_001338677.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "NM_001351750.2",
"protein_id": "NP_001338679.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "NM_001351753.2",
"protein_id": "NP_001338682.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
"cds_length": 537,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "ENST00000510370.5",
"protein_id": "ENSP00000424017.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
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"cdna_start": 545,
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"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "ENST00000503182.5",
"protein_id": "ENSP00000422662.1",
"transcript_support_level": 4,
"aa_start": 105,
"aa_end": null,
"aa_length": 168,
"cds_start": 315,
"cds_end": null,
"cds_length": 507,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "ENST00000510307.5",
"protein_id": "ENSP00000424050.1",
"transcript_support_level": 4,
"aa_start": 105,
"aa_end": null,
"aa_length": 119,
"cds_start": 315,
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"cdna_start": 546,
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"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "ENST00000512766.5",
"protein_id": "ENSP00000423182.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 118,
"cds_start": 315,
"cds_end": null,
"cds_length": 357,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.348T>G",
"hgvs_p": "p.Val116Val",
"transcript": "XM_005262778.4",
"protein_id": "XP_005262835.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 189,
"cds_start": 348,
"cds_end": null,
"cds_length": 570,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val",
"transcript": "XM_017007820.3",
"protein_id": "XP_016863309.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 178,
"cds_start": 315,
"cds_end": null,
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"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
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"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.*53T>G",
"hgvs_p": null,
"transcript": "ENST00000500813.6",
"protein_id": "ENSP00000425462.1",
"transcript_support_level": 2,
"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": 1829,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.*325T>G",
"hgvs_p": null,
"transcript": "ENST00000507543.5",
"protein_id": "ENSP00000422386.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1874,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.*53T>G",
"hgvs_p": null,
"transcript": "ENST00000500813.6",
"protein_id": "ENSP00000425462.1",
"transcript_support_level": 2,
"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": 1829,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.*325T>G",
"hgvs_p": null,
"transcript": "ENST00000507543.5",
"protein_id": "ENSP00000422386.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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},
{
"aa_ref": null,
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],
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},
{
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],
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},
{
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"protein_coding": true,
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"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"gene_symbol": "DCTD",
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"hgvs_c": "c.*19T>G",
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"transcript": "ENST00000514754.5",
"protein_id": "ENSP00000423894.1",
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"feature": null
}
],
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"dbsnp": "rs4742",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"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": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.264,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000438320.7",
"gene_symbol": "DCTD",
"hgnc_id": 2710,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.315T>G",
"hgvs_p": "p.Val105Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000795667.1",
"gene_symbol": "ENSG00000303565",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.453+649A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}