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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: 7-550592-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=550592&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 550592,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_002735.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "NM_001164760.2",
"protein_id": "NP_001158232.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "ENST00000537384.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164760.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000537384.6",
"protein_id": "ENSP00000440449.1",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "NM_001164760.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537384.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000360274.8",
"protein_id": "ENSP00000353415.4",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360274.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000403562.5",
"protein_id": "ENSP00000385349.1",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403562.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000406797.5",
"protein_id": "ENSP00000385749.1",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406797.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1077A>C",
"hgvs_p": "p.Ala359Ala",
"transcript": "ENST00000852410.1",
"protein_id": "ENSP00000522469.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 412,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852410.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "NM_001164758.2",
"protein_id": "NP_001158230.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164758.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "NM_001164759.1",
"protein_id": "NP_001158231.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164759.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "NM_001164761.2",
"protein_id": "NP_001158233.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164761.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "NM_001164762.2",
"protein_id": "NP_001158234.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164762.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "NM_002735.3",
"protein_id": "NP_002726.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002735.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000544935.5",
"protein_id": "ENSP00000444487.1",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544935.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852399.1",
"protein_id": "ENSP00000522458.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852399.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852400.1",
"protein_id": "ENSP00000522459.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852400.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852401.1",
"protein_id": "ENSP00000522460.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852401.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852402.1",
"protein_id": "ENSP00000522461.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852402.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852403.1",
"protein_id": "ENSP00000522462.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852403.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852404.1",
"protein_id": "ENSP00000522463.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852404.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852405.1",
"protein_id": "ENSP00000522464.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 2464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852405.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852406.1",
"protein_id": "ENSP00000522465.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852406.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852407.1",
"protein_id": "ENSP00000522466.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 381,
"cds_start": 984,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852407.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000852408.1",
"protein_id": "ENSP00000522467.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
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{
"aa_ref": "A",
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],
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"exon_count": 8,
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"gene_symbol": "PRKAR1B",
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"protein_id": "XP_047276565.1",
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"biotype": "protein_coding",
"feature": "XM_047420609.1"
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
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"exon_count": 8,
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"gene_symbol": "PRKAR1B",
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"hgvs_c": "c.528A>C",
"hgvs_p": "p.Ala176Ala",
"transcript": "XM_047420610.1",
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"cdna_length": 2072,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420610.1"
}
],
"gene_symbol": "PRKAR1B",
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"dbsnp": "rs28626752",
"frequency_reference_population": 0.0000021008668,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000210087,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07199999690055847,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.636,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002735.3",
"gene_symbol": "PRKAR1B",
"hgnc_id": 9390,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.984A>C",
"hgvs_p": "p.Ala328Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}