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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: X-65518120-TTCA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65518120&ref=TTCA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 65518120,
"ref": "TTCA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_031206.7",
"consequences": [
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1791_1793delTGA",
"hgvs_p": "p.Asp597del",
"transcript": "NM_031206.7",
"protein_id": "NP_112483.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 734,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374811.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031206.7"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1791_1793delTGA",
"hgvs_p": "p.Asp597del",
"transcript": "ENST00000374811.8",
"protein_id": "ENSP00000363944.3",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 734,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031206.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374811.8"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1740_1742delTGA",
"hgvs_p": "p.Asp580del",
"transcript": "ENST00000374807.9",
"protein_id": "ENSP00000363940.5",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 717,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374807.9"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1833_1835delTGA",
"hgvs_p": "p.Asp611del",
"transcript": "ENST00000867035.1",
"protein_id": "ENSP00000537094.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 748,
"cds_start": 1833,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867035.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1791_1793delTGA",
"hgvs_p": "p.Asp597del",
"transcript": "NM_001375328.1",
"protein_id": "NP_001362257.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 733,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375328.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1791_1793delTGA",
"hgvs_p": "p.Asp597del",
"transcript": "ENST00000867034.1",
"protein_id": "ENSP00000537093.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 733,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867034.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1770_1772delTGA",
"hgvs_p": "p.Asp590del",
"transcript": "ENST00000867036.1",
"protein_id": "ENSP00000537095.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 727,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867036.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1770_1772delTGA",
"hgvs_p": "p.Asp590del",
"transcript": "ENST00000911726.1",
"protein_id": "ENSP00000581785.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 726,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911726.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1752_1754delTGA",
"hgvs_p": "p.Asp584del",
"transcript": "ENST00000971942.1",
"protein_id": "ENSP00000642001.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 721,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971942.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1740_1742delTGA",
"hgvs_p": "p.Asp580del",
"transcript": "NM_001170649.2",
"protein_id": "NP_001164120.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 717,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170649.2"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1740_1742delTGA",
"hgvs_p": "p.Asp580del",
"transcript": "NM_001375333.1",
"protein_id": "NP_001362262.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 716,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375333.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1740_1742delTGA",
"hgvs_p": "p.Asp580del",
"transcript": "ENST00000867031.1",
"protein_id": "ENSP00000537090.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 716,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867031.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1698_1700delTGA",
"hgvs_p": "p.Asp566del",
"transcript": "ENST00000971940.1",
"protein_id": "ENSP00000641999.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 703,
"cds_start": 1698,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971940.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1665_1667delTGA",
"hgvs_p": "p.Asp555del",
"transcript": "ENST00000867037.1",
"protein_id": "ENSP00000537096.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 692,
"cds_start": 1665,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867037.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1647_1649delTGA",
"hgvs_p": "p.Asp549del",
"transcript": "ENST00000971938.1",
"protein_id": "ENSP00000641997.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 686,
"cds_start": 1647,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971938.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1626_1628delTGA",
"hgvs_p": "p.Asp542del",
"transcript": "ENST00000911730.1",
"protein_id": "ENSP00000581789.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 679,
"cds_start": 1626,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911730.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1614_1616delTGA",
"hgvs_p": "p.Asp538del",
"transcript": "NM_001170650.2",
"protein_id": "NP_001164121.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 675,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170650.2"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1614_1616delTGA",
"hgvs_p": "p.Asp538del",
"transcript": "ENST00000374804.9",
"protein_id": "ENSP00000363937.5",
"transcript_support_level": 2,
"aa_start": 538,
"aa_end": null,
"aa_length": 675,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374804.9"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1614_1616delTGA",
"hgvs_p": "p.Asp538del",
"transcript": "ENST00000911728.1",
"protein_id": "ENSP00000581787.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 675,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911728.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1614_1616delTGA",
"hgvs_p": "p.Asp538del",
"transcript": "ENST00000867032.1",
"protein_id": "ENSP00000537091.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 674,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867032.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAS1L",
"gene_hgnc_id": 25726,
"hgvs_c": "c.1584_1586delTGA",
"hgvs_p": "p.Asp528del",
"transcript": "ENST00000867033.1",
"protein_id": "ENSP00000537092.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 665,
"cds_start": 1584,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867033.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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{
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{
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{
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{
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{
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],
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{
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],
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"biotype": "retained_intron",
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],
"gene_symbol": "LAS1L",
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"dbsnp": "rs750470319",
"frequency_reference_population": 0.00042510792,
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"allele_count_reference_population": 509,
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"gnomad_exomes_homalt": 1,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.487,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_031206.7",
"gene_symbol": "LAS1L",
"hgnc_id": 25726,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "c.1791_1793delTGA",
"hgvs_p": "p.Asp597del"
}
],
"clinvar_disease": "LAS1L-related disorder,Wilson-Turner syndrome",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Wilson-Turner syndrome|LAS1L-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}