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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: 10-3155664-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3155664&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 3155664,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000224949.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "NM_014889.4",
"protein_id": "NP_055704.2",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1548,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": "ENST00000224949.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "ENST00000224949.9",
"protein_id": "ENSP00000224949.4",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1548,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": "NM_014889.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "ENST00000380989.6",
"protein_id": "ENSP00000370377.2",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 1038,
"cds_start": 1548,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "NM_001242307.2",
"protein_id": "NP_001229236.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1038,
"cds_start": 1548,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1524G>C",
"hgvs_p": "p.Gln508His",
"transcript": "NM_001347729.1",
"protein_id": "NP_001334658.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 1029,
"cds_start": 1524,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1500G>C",
"hgvs_p": "p.Gln500His",
"transcript": "ENST00000678987.1",
"protein_id": "ENSP00000504462.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1500,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "ENST00000678441.1",
"protein_id": "ENSP00000504785.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 996,
"cds_start": 1548,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "ENST00000678370.1",
"protein_id": "ENSP00000504540.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 995,
"cds_start": 1548,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1413G>C",
"hgvs_p": "p.Gln471His",
"transcript": "ENST00000676953.1",
"protein_id": "ENSP00000504468.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 992,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "NM_001347725.2",
"protein_id": "NP_001334654.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 971,
"cds_start": 1548,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "ENST00000678436.1",
"protein_id": "ENSP00000503187.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 971,
"cds_start": 1548,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1524G>C",
"hgvs_p": "p.Gln508His",
"transcript": "NM_001347730.1",
"protein_id": "NP_001334659.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 963,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1452G>C",
"hgvs_p": "p.Gln484His",
"transcript": "NM_001242309.1",
"protein_id": "NP_001229238.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 939,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1452G>C",
"hgvs_p": "p.Gln484His",
"transcript": "ENST00000451104.6",
"protein_id": "ENSP00000401201.2",
"transcript_support_level": 2,
"aa_start": 484,
"aa_end": null,
"aa_length": 939,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.933G>C",
"hgvs_p": "p.Gln311His",
"transcript": "NM_001347727.2",
"protein_id": "NP_001334656.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 832,
"cds_start": 933,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.933G>C",
"hgvs_p": "p.Gln311His",
"transcript": "ENST00000380994.6",
"protein_id": "ENSP00000370382.2",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 832,
"cds_start": 933,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.933G>C",
"hgvs_p": "p.Gln311His",
"transcript": "NM_001347726.2",
"protein_id": "NP_001334655.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 766,
"cds_start": 933,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Gln81His",
"transcript": "NM_001347728.2",
"protein_id": "NP_001334657.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 602,
"cds_start": 243,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "ENST00000430362.2",
"protein_id": "ENSP00000391526.2",
"transcript_support_level": 3,
"aa_start": 516,
"aa_end": null,
"aa_length": 596,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1413G>C",
"hgvs_p": "p.Gln471His",
"transcript": "ENST00000678663.1",
"protein_id": "ENSP00000504725.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 551,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "XM_047424445.1",
"protein_id": "XP_047280401.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 639,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1548G>C",
"hgvs_p": "p.Gln516His",
"transcript": "XM_047424446.1",
"protein_id": "XP_047280402.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 636,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
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{
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}