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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: 1-113837699-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113837699&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113837699,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_015967.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "NM_015967.8",
"protein_id": "NP_057051.4",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 807,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359785.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015967.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "ENST00000359785.10",
"protein_id": "ENSP00000352833.5",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 807,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015967.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359785.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "ENST00000420377.6",
"protein_id": "ENSP00000388229.2",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 795,
"cds_start": 1701,
"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": "ENST00000420377.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Leu543Leu",
"transcript": "ENST00000538253.5",
"protein_id": "ENSP00000439372.2",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 783,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538253.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1536G>A",
"hgvs_p": "p.Leu512Leu",
"transcript": "ENST00000528414.5",
"protein_id": "ENSP00000435176.1",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 752,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528414.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1320G>A",
"hgvs_p": "p.Leu440Leu",
"transcript": "ENST00000525799.1",
"protein_id": "ENSP00000432674.1",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 668,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525799.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.469-18045G>A",
"hgvs_p": null,
"transcript": "ENST00000460620.5",
"protein_id": "ENSP00000433141.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460620.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "ENST00000910047.1",
"protein_id": "ENSP00000580106.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 832,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910047.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "ENST00000941803.1",
"protein_id": "ENSP00000611862.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 806,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941803.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1680G>A",
"hgvs_p": "p.Leu560Leu",
"transcript": "ENST00000910051.1",
"protein_id": "ENSP00000580110.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 800,
"cds_start": 1680,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910051.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "ENST00000910052.1",
"protein_id": "ENSP00000580111.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 794,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910052.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Leu543Leu",
"transcript": "NM_001308297.2",
"protein_id": "NP_001295226.2",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 783,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308297.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Leu541Leu",
"transcript": "ENST00000910049.1",
"protein_id": "ENSP00000580108.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 781,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910049.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "NM_001193431.3",
"protein_id": "NP_001180360.2",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 779,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193431.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "ENST00000910046.1",
"protein_id": "ENSP00000580105.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 779,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910046.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1614G>A",
"hgvs_p": "p.Leu538Leu",
"transcript": "ENST00000910048.1",
"protein_id": "ENSP00000580107.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 778,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910048.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1602G>A",
"hgvs_p": "p.Leu534Leu",
"transcript": "ENST00000941804.1",
"protein_id": "ENSP00000611863.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 774,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941804.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Leu543Leu",
"transcript": "ENST00000910050.1",
"protein_id": "ENSP00000580109.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 755,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910050.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1536G>A",
"hgvs_p": "p.Leu512Leu",
"transcript": "NM_012411.6",
"protein_id": "NP_036543.5",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 752,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012411.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1491G>A",
"hgvs_p": "p.Leu497Leu",
"transcript": "ENST00000910053.1",
"protein_id": "ENSP00000580112.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 737,
"cds_start": 1491,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910053.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Leu541Leu",
"transcript": "XM_011541221.2",
"protein_id": "XP_011539523.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 781,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541221.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN22",
"gene_hgnc_id": 9652,
"hgvs_c": "c.1701G>A",
"hgvs_p": "p.Leu567Leu",
"transcript": "XM_011541222.2",
"protein_id": "XP_011539524.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 773,
"cds_start": 1701,
"cds_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.74,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015967.8",
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"effects": [
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"inheritance_mode": "Unknown,AR",
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{
"score": -9,
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"BP6",
"BS2"
],
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}