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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: 8-144519798-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144519798&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144519798,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_014665.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "NM_014665.4",
"protein_id": "NP_055480.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292524.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014665.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000292524.6",
"protein_id": "ENSP00000292524.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014665.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292524.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000529022.5",
"protein_id": "ENSP00000434768.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529022.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "NM_001272036.2",
"protein_id": "NP_001258965.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272036.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000887351.1",
"protein_id": "ENSP00000557410.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887351.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000927377.1",
"protein_id": "ENSP00000597436.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927377.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000927378.1",
"protein_id": "ENSP00000597437.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927378.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000927379.1",
"protein_id": "ENSP00000597438.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927379.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000953063.1",
"protein_id": "ENSP00000623122.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953063.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000953064.1",
"protein_id": "ENSP00000623123.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953064.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000953065.1",
"protein_id": "ENSP00000623124.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953065.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000953066.1",
"protein_id": "ENSP00000623125.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953066.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000953067.1",
"protein_id": "ENSP00000623126.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953067.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000953068.1",
"protein_id": "ENSP00000623127.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953068.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000527730.1",
"protein_id": "ENSP00000436452.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 300,
"cds_start": 73,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527730.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000525766.1",
"protein_id": "ENSP00000434738.1",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 158,
"cds_start": 73,
"cds_end": null,
"cds_length": 479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525766.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "ENST00000530854.1",
"protein_id": "ENSP00000435985.1",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 85,
"cds_start": 73,
"cds_end": null,
"cds_length": 260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530854.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "XM_005272358.6",
"protein_id": "XP_005272415.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272358.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "XM_005272359.6",
"protein_id": "XP_005272416.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272359.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Leu25Leu",
"transcript": "XM_024447336.2",
"protein_id": "XP_024303104.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 493,
"cds_start": 73,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447336.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.-9-36T>C",
"hgvs_p": null,
"transcript": "XM_017014005.3",
"protein_id": "XP_016869494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014005.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC14",
"gene_hgnc_id": 20419,
"hgvs_c": "c.-9-36T>C",
"hgvs_p": null,
"transcript": "XM_024447337.2",
"protein_id": "XP_024303105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "NM_014665.4",
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"effects": [
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}