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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: 2-240726829-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240726829&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240726829,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001379631.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "NM_001244008.2",
"protein_id": "NP_001230937.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "ENST00000498729.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244008.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "ENST00000498729.9",
"protein_id": "ENSP00000438388.1",
"transcript_support_level": 5,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "NM_001244008.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498729.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.1281C>G",
"hgvs_p": null,
"transcript": "ENST00000492812.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492812.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "ENST00000675932.2",
"protein_id": "ENSP00000502786.2",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1894,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 9151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675932.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4248C>G",
"hgvs_p": "p.Ile1416Met",
"transcript": "ENST00000675314.2",
"protein_id": "ENSP00000502584.2",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1834,
"cds_start": 4248,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 4406,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675314.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4245C>G",
"hgvs_p": "p.Ile1415Met",
"transcript": "ENST00000674607.2",
"protein_id": "ENSP00000501825.2",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1833,
"cds_start": 4245,
"cds_end": null,
"cds_length": 5502,
"cdna_start": 4403,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674607.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4221C>G",
"hgvs_p": "p.Ile1407Met",
"transcript": "ENST00000448728.2",
"protein_id": "ENSP00000398686.2",
"transcript_support_level": 5,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4221,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 4691,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448728.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4194C>G",
"hgvs_p": "p.Ile1398Met",
"transcript": "NM_001379631.1",
"protein_id": "NP_001366560.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4194,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 4352,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379631.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4170C>G",
"hgvs_p": "p.Ile1390Met",
"transcript": "ENST00000675126.2",
"protein_id": "ENSP00000501874.2",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4170,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 4324,
"cdna_end": null,
"cdna_length": 9177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675126.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4155C>G",
"hgvs_p": "p.Ile1385Met",
"transcript": "ENST00000674975.2",
"protein_id": "ENSP00000502241.2",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1803,
"cds_start": 4155,
"cds_end": null,
"cds_length": 5412,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 9167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674975.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4143C>G",
"hgvs_p": "p.Ile1381Met",
"transcript": "ENST00000404283.9",
"protein_id": "ENSP00000384231.5",
"transcript_support_level": 5,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1799,
"cds_start": 4143,
"cds_end": null,
"cds_length": 5400,
"cdna_start": 4390,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404283.9"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "ENST00000676050.2",
"protein_id": "ENSP00000501938.2",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1796,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 9146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676050.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "NM_001379642.1",
"protein_id": "NP_001366571.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4277,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379642.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "ENST00000647572.2",
"protein_id": "ENSP00000497953.2",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4403,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647572.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "ENST00000674664.2",
"protein_id": "ENSP00000501778.2",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4210,
"cdna_end": null,
"cdna_length": 9064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674664.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "ENST00000674907.2",
"protein_id": "ENSP00000502048.2",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4505,
"cdna_end": null,
"cdna_length": 9359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674907.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "ENST00000675152.2",
"protein_id": "ENSP00000501849.2",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4350,
"cdna_end": null,
"cdna_length": 9204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675152.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4119C>G",
"hgvs_p": "p.Ile1373Met",
"transcript": "ENST00000675940.2",
"protein_id": "ENSP00000501962.2",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4119,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675940.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4095C>G",
"hgvs_p": "p.Ile1365Met",
"transcript": "NM_001379632.1",
"protein_id": "NP_001366561.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4095,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379632.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4092C>G",
"hgvs_p": "p.Ile1364Met",
"transcript": "NM_001379633.1",
"protein_id": "NP_001366562.1",
"transcript_support_level": null,
"aa_start": 1364,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4092,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4250,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379633.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4092C>G",
"hgvs_p": "p.Ile1364Met",
"transcript": "NM_001379645.1",
"protein_id": "NP_001366574.1",
"transcript_support_level": null,
"aa_start": 1364,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4092,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4276,
"cdna_end": null,
"cdna_length": 9130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379645.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4092C>G",
"hgvs_p": "p.Ile1364Met",
"transcript": "ENST00000648129.1",
"protein_id": "ENSP00000497293.1",
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "KIF1A",
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"hgvs_c": "n.*9C>G",
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"transcript": "ENST00000494452.1",
"protein_id": null,
"transcript_support_level": 2,
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"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 583,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494452.1"
}
],
"gene_symbol": "KIF1A",
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"dbsnp": "rs764237250",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138058,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10612896084785461,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.1052,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.259,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001379631.1",
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4194C>G",
"hgvs_p": "p.Ile1398Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}