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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: 21-43056876-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43056876&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43056876,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000398165.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "NM_000071.3",
"protein_id": "NP_000062.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "ENST00000398165.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "ENST00000398165.8",
"protein_id": "ENSP00000381231.4",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "NM_000071.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "ENST00000352178.9",
"protein_id": "ENSP00000344460.5",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "ENST00000359624.7",
"protein_id": "ENSP00000352643.3",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "ENST00000398158.5",
"protein_id": "ENSP00000381225.1",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 2453,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "n.1790G>T",
"hgvs_p": null,
"transcript": "ENST00000461686.5",
"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": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "NM_001178008.3",
"protein_id": "NP_001171479.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "NM_001178009.3",
"protein_id": "NP_001171480.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "NM_001320298.2",
"protein_id": "NP_001307227.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 551,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1164G>T",
"hgvs_p": "p.Thr388Thr",
"transcript": "NM_001321072.1",
"protein_id": "NP_001308001.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 446,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"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": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.438G>T",
"hgvs_p": "p.Thr146Thr",
"transcript": "ENST00000430013.1",
"protein_id": "ENSP00000405929.1",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 223,
"cds_start": 438,
"cds_end": null,
"cds_length": 672,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.240G>T",
"hgvs_p": "p.Thr80Thr",
"transcript": "ENST00000458223.5",
"protein_id": "ENSP00000408014.1",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 158,
"cds_start": 240,
"cds_end": null,
"cds_length": 477,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.228G>T",
"hgvs_p": "p.Thr76Thr",
"transcript": "ENST00000451248.5",
"protein_id": "ENSP00000402823.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 148,
"cds_start": 228,
"cds_end": null,
"cds_length": 447,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Thr510Thr",
"transcript": "XM_011529774.3",
"protein_id": "XP_011528076.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 582,
"cds_start": 1530,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Thr510Thr",
"transcript": "XM_047441017.1",
"protein_id": "XP_047296973.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 582,
"cds_start": 1530,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Thr510Thr",
"transcript": "XM_047441018.1",
"protein_id": "XP_047296974.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 568,
"cds_start": 1530,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Thr510Thr",
"transcript": "XM_047441019.1",
"protein_id": "XP_047296975.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 568,
"cds_start": 1530,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "XM_011529777.2",
"protein_id": "XP_011528079.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 565,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "XM_047441020.1",
"protein_id": "XP_047296976.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 565,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "XM_047441021.1",
"protein_id": "XP_047296977.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 565,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "XM_047441022.1",
"protein_id": "XP_047296978.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 565,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "XM_047441023.1",
"protein_id": "XP_047296979.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 565,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1479G>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "XM_047441024.1",
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}