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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: 19-45626741-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45626741&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45626741,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000245925.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.705G>A",
"hgvs_p": "p.Glu235Glu",
"transcript": "NM_012155.4",
"protein_id": "NP_036287.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 649,
"cds_start": 705,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": "ENST00000245925.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.705G>A",
"hgvs_p": "p.Glu235Glu",
"transcript": "ENST00000245925.8",
"protein_id": "ENSP00000245925.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 649,
"cds_start": 705,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": "NM_012155.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.705G>A",
"hgvs_p": "p.Glu235Glu",
"transcript": "ENST00000589876.5",
"protein_id": "ENSP00000464789.1",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 773,
"cds_start": 705,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2364,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.726G>A",
"hgvs_p": null,
"transcript": "ENST00000588610.5",
"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": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Glu436Glu",
"transcript": "NM_001193268.3",
"protein_id": "NP_001180197.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 850,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1308G>A",
"hgvs_p": "p.Glu436Glu",
"transcript": "ENST00000587152.6",
"protein_id": "ENSP00000468312.1",
"transcript_support_level": 2,
"aa_start": 436,
"aa_end": null,
"aa_length": 850,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Glu435Glu",
"transcript": "NM_001352052.1",
"protein_id": "NP_001338981.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 849,
"cds_start": 1305,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1146G>A",
"hgvs_p": "p.Glu382Glu",
"transcript": "NM_001193269.2",
"protein_id": "NP_001180198.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 796,
"cds_start": 1146,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1146G>A",
"hgvs_p": "p.Glu382Glu",
"transcript": "ENST00000536630.5",
"protein_id": "ENSP00000442365.1",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 796,
"cds_start": 1146,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Glu381Glu",
"transcript": "NM_001352053.2",
"protein_id": "NP_001338982.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 795,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Glu213Glu",
"transcript": "NM_001352054.2",
"protein_id": "NP_001338983.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 627,
"cds_start": 639,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.357G>A",
"hgvs_p": "p.Glu119Glu",
"transcript": "NM_001352051.2",
"protein_id": "NP_001338980.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 533,
"cds_start": 357,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Glu213Glu",
"transcript": "ENST00000586770.5",
"protein_id": "ENSP00000465786.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 224,
"cds_start": 639,
"cds_end": null,
"cds_length": 675,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.252G>A",
"hgvs_p": "p.Glu84Glu",
"transcript": "ENST00000588496.5",
"protein_id": "ENSP00000465607.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 222,
"cds_start": 252,
"cds_end": null,
"cds_length": 669,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 669,
"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": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.1179G>A",
"hgvs_p": null,
"transcript": "ENST00000399594.7",
"protein_id": "ENSP00000382503.3",
"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": 2232,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.425G>A",
"hgvs_p": null,
"transcript": "ENST00000586195.5",
"protein_id": "ENSP00000465339.1",
"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": 1952,
"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": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.337G>A",
"hgvs_p": null,
"transcript": "ENST00000586902.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 557,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.730G>A",
"hgvs_p": null,
"transcript": "ENST00000588000.5",
"protein_id": null,
"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": 1542,
"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": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.705G>A",
"hgvs_p": null,
"transcript": "ENST00000588308.5",
"protein_id": "ENSP00000468329.1",
"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": 2062,
"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": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.337G>A",
"hgvs_p": null,
"transcript": "ENST00000590580.5",
"protein_id": null,
"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": 539,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.12G>A",
"hgvs_p": null,
"transcript": "ENST00000590819.5",
"protein_id": "ENSP00000464950.1",
"transcript_support_level": 3,
"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": 626,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.*128G>A",
"hgvs_p": null,
"transcript": "ENST00000592853.5",
"protein_id": "ENSP00000468383.1",
"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": 539,
"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": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.1224G>A",
"hgvs_p": null,
"transcript": "NR_147899.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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],
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{
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"BP7"
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"verdict": "Likely_benign",
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}
],
"message": null
}