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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: 2-216435495-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216435495&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216435495,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014140.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "NM_014140.4",
"protein_id": "NP_054859.2",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": "ENST00000357276.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014140.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000357276.9",
"protein_id": "ENSP00000349823.4",
"transcript_support_level": 2,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": "NM_014140.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357276.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000358207.9",
"protein_id": "ENSP00000350940.5",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358207.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Ile412Thr",
"transcript": "ENST00000392128.6",
"protein_id": "ENSP00000375974.2",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 796,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392128.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000932386.1",
"protein_id": "ENSP00000602445.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 998,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932386.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000860357.1",
"protein_id": "ENSP00000530416.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 966,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860357.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Ile560Thr",
"transcript": "ENST00000956025.1",
"protein_id": "ENSP00000626084.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 966,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956025.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1661T>C",
"hgvs_p": "p.Ile554Thr",
"transcript": "ENST00000932385.1",
"protein_id": "ENSP00000602444.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 960,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932385.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "NM_001127207.2",
"protein_id": "NP_001120679.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127207.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000425815.6",
"protein_id": "ENSP00000394410.2",
"transcript_support_level": 3,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425815.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000430374.6",
"protein_id": "ENSP00000405077.2",
"transcript_support_level": 2,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430374.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000444508.6",
"protein_id": "ENSP00000398969.2",
"transcript_support_level": 2,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444508.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000860358.1",
"protein_id": "ENSP00000530417.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860358.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000860359.1",
"protein_id": "ENSP00000530418.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860359.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000956024.1",
"protein_id": "ENSP00000626083.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 954,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956024.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000860356.1",
"protein_id": "ENSP00000530415.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 896,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860356.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Ile548Thr",
"transcript": "ENST00000932387.1",
"protein_id": "ENSP00000602446.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 896,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932387.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Ile470Thr",
"transcript": "ENST00000697899.1",
"protein_id": "ENSP00000513470.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 876,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697899.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Ile470Thr",
"transcript": "ENST00000697906.1",
"protein_id": "ENSP00000513475.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 876,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697906.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Ile470Thr",
"transcript": "ENST00000932384.1",
"protein_id": "ENSP00000602443.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 876,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932384.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1358T>C",
"hgvs_p": "p.Ile453Thr",
"transcript": "ENST00000860355.1",
"protein_id": "ENSP00000530414.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 859,
"cds_start": 1358,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860355.1"
},
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}
],
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}