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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: 1-119734718-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119734718&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 119734718,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000641023.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "NM_006623.4",
"protein_id": "NP_006614.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 533,
"cds_start": 595,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": "ENST00000641023.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000641023.2",
"protein_id": "ENSP00000493175.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 533,
"cds_start": 595,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": "NM_006623.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000369409.9",
"protein_id": "ENSP00000358417.5",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 532,
"cds_start": 595,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000641597.1",
"protein_id": "ENSP00000493382.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 533,
"cds_start": 595,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000641947.1",
"protein_id": "ENSP00000492994.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 526,
"cds_start": 595,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000641115.1",
"protein_id": "ENSP00000493264.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 445,
"cds_start": 595,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.595C>G",
"hgvs_p": "p.Leu199Val",
"transcript": "ENST00000641074.1",
"protein_id": "ENSP00000493446.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 429,
"cds_start": 595,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.349C>G",
"hgvs_p": "p.Leu117Val",
"transcript": "ENST00000641811.1",
"protein_id": "ENSP00000493296.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 275,
"cds_start": 349,
"cds_end": null,
"cds_length": 828,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.529C>G",
"hgvs_p": "p.Leu177Val",
"transcript": "ENST00000641272.1",
"protein_id": "ENSP00000493432.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 238,
"cds_start": 529,
"cds_end": null,
"cds_length": 718,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.817C>G",
"hgvs_p": "p.Leu273Val",
"transcript": "XM_011541226.3",
"protein_id": "XP_011539528.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 607,
"cds_start": 817,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.739C>G",
"hgvs_p": "p.Leu247Val",
"transcript": "XM_011541227.3",
"protein_id": "XP_011539529.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 581,
"cds_start": 739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Leu236Val",
"transcript": "XM_011541228.3",
"protein_id": "XP_011539530.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 570,
"cds_start": 706,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Leu178Val",
"transcript": "XM_047417680.1",
"protein_id": "XP_047273636.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 512,
"cds_start": 532,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Leu104Val",
"transcript": "XM_047417682.1",
"protein_id": "XP_047273638.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 438,
"cds_start": 310,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "XM_047417683.1",
"protein_id": "XP_047273639.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 435,
"cds_start": 301,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.2000C>G",
"hgvs_p": null,
"transcript": "ENST00000369407.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.415C>G",
"hgvs_p": null,
"transcript": "ENST00000469443.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.*248C>G",
"hgvs_p": null,
"transcript": "ENST00000641213.1",
"protein_id": "ENSP00000493079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.*314C>G",
"hgvs_p": null,
"transcript": "ENST00000641247.1",
"protein_id": "ENSP00000492955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.580C>G",
"hgvs_p": null,
"transcript": "ENST00000641314.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.*71C>G",
"hgvs_p": null,
"transcript": "ENST00000641371.1",
"protein_id": "ENSP00000493305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.*431C>G",
"hgvs_p": null,
"transcript": "ENST00000641375.1",
"protein_id": "ENSP00000493089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.*314C>G",
"hgvs_p": null,
"transcript": "ENST00000641570.1",
"protein_id": "ENSP00000493213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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{
"score": -20,
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"pathogenic_score": 0,
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"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000641023.2",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "Neu-Laxova syndrome 1,PHGDH deficiency,PHGDH-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not provided|PHGDH deficiency|PHGDH-related disorder|Neu-Laxova syndrome 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}