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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: 19-45609729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45609729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45609729,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001193268.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Trp628*",
"transcript": "NM_012155.4",
"protein_id": "NP_036287.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 649,
"cds_start": 1884,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245925.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012155.4"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Trp628*",
"transcript": "ENST00000245925.8",
"protein_id": "ENSP00000245925.3",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 649,
"cds_start": 1884,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012155.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245925.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1825-2223G>A",
"hgvs_p": null,
"transcript": "ENST00000589876.5",
"protein_id": "ENSP00000464789.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": null,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589876.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2487G>A",
"hgvs_p": "p.Trp829*",
"transcript": "NM_001193268.3",
"protein_id": "NP_001180197.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 850,
"cds_start": 2487,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193268.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2487G>A",
"hgvs_p": "p.Trp829*",
"transcript": "ENST00000587152.6",
"protein_id": "ENSP00000468312.1",
"transcript_support_level": 2,
"aa_start": 829,
"aa_end": null,
"aa_length": 850,
"cds_start": 2487,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587152.6"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2484G>A",
"hgvs_p": "p.Trp828*",
"transcript": "NM_001352052.1",
"protein_id": "NP_001338981.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 849,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352052.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2325G>A",
"hgvs_p": "p.Trp775*",
"transcript": "NM_001193269.2",
"protein_id": "NP_001180198.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 796,
"cds_start": 2325,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193269.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2325G>A",
"hgvs_p": "p.Trp775*",
"transcript": "ENST00000536630.5",
"protein_id": "ENSP00000442365.1",
"transcript_support_level": 2,
"aa_start": 775,
"aa_end": null,
"aa_length": 796,
"cds_start": 2325,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536630.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2322G>A",
"hgvs_p": "p.Trp774*",
"transcript": "NM_001352053.2",
"protein_id": "NP_001338982.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 795,
"cds_start": 2322,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352053.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1989G>A",
"hgvs_p": "p.Trp663*",
"transcript": "ENST00000905380.1",
"protein_id": "ENSP00000575439.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 684,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905380.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1908G>A",
"hgvs_p": "p.Trp636*",
"transcript": "ENST00000905379.1",
"protein_id": "ENSP00000575438.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 657,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905379.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1827G>A",
"hgvs_p": "p.Trp609*",
"transcript": "ENST00000905381.1",
"protein_id": "ENSP00000575440.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 630,
"cds_start": 1827,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905381.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Trp606*",
"transcript": "NM_001352054.2",
"protein_id": "NP_001338983.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 627,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352054.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1749G>A",
"hgvs_p": "p.Trp583*",
"transcript": "ENST00000905378.1",
"protein_id": "ENSP00000575437.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 604,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905378.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1728G>A",
"hgvs_p": "p.Trp576*",
"transcript": "ENST00000905382.1",
"protein_id": "ENSP00000575441.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 597,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905382.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Trp543*",
"transcript": "ENST00000933602.1",
"protein_id": "ENSP00000603661.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 564,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933602.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1536G>A",
"hgvs_p": "p.Trp512*",
"transcript": "NM_001352051.2",
"protein_id": "NP_001338980.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 533,
"cds_start": 1536,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352051.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1503G>A",
"hgvs_p": "p.Trp501*",
"transcript": "ENST00000953959.1",
"protein_id": "ENSP00000624018.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 522,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.*1166G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586195.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.*391G>A",
"hgvs_p": null,
"transcript": "ENST00000586405.1",
"protein_id": "ENSP00000465885.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.*434G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588308.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.638G>A",
"hgvs_p": null,
"transcript": "ENST00000592433.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}