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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: 2-219504138-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219504138&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219504138,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000313597.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "NM_013335.4",
"protein_id": "NP_037467.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": "ENST00000313597.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "ENST00000313597.10",
"protein_id": "ENSP00000315925.6",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": "NM_013335.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "ENST00000358215.8",
"protein_id": "ENSP00000350949.3",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "NM_001438893.1",
"protein_id": "NP_001425822.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 473,
"cds_start": 545,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "NM_001438894.1",
"protein_id": "NP_001425823.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 473,
"cds_start": 545,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "NM_001438895.1",
"protein_id": "NP_001425824.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 473,
"cds_start": 545,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "ENST00000373917.7",
"protein_id": "ENSP00000363027.3",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 473,
"cds_start": 545,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "NM_001374294.1",
"protein_id": "NP_001361223.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "NM_001374295.1",
"protein_id": "NP_001361224.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "NM_205847.3",
"protein_id": "NP_995319.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "ENST00000341142.8",
"protein_id": "ENSP00000340760.3",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "ENST00000373908.5",
"protein_id": "ENSP00000363016.1",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "ENST00000622191.2",
"protein_id": "ENSP00000478700.2",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 420,
"cds_start": 545,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Gly65Asp",
"transcript": "ENST00000683752.1",
"protein_id": "ENSP00000507197.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 303,
"cds_start": 194,
"cds_end": null,
"cds_length": 912,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Gly147Asp",
"transcript": "ENST00000435316.6",
"protein_id": "ENSP00000411060.1",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 248,
"cds_start": 440,
"cds_end": null,
"cds_length": 748,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "XM_047444023.1",
"protein_id": "XP_047299979.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 478,
"cds_start": 545,
"cds_end": null,
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"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "XM_047444024.1",
"protein_id": "XP_047299980.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 478,
"cds_start": 545,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "XM_047444025.1",
"protein_id": "XP_047299981.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 478,
"cds_start": 545,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "XM_047444026.1",
"protein_id": "XP_047299982.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 478,
"cds_start": 545,
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"cdna_start": 929,
"cdna_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "XM_047444030.1",
"protein_id": "XP_047299986.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 425,
"cds_start": 545,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Gly57Asp",
"transcript": "XM_047444031.1",
"protein_id": "XP_047299987.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 353,
"cds_start": 170,
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"cds_length": 1062,
"cdna_start": 335,
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"cdna_length": 1418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "XM_047444032.1",
"protein_id": "XP_047299988.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 295,
"cds_start": 545,
"cds_end": null,
"cds_length": 888,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Asp",
"transcript": "XM_047444033.1",
"protein_id": "XP_047299989.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 263,
"cds_start": 545,
"cds_end": null,
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"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Alacrima, achalasia, and intellectual disability syndrome|not provided",
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}
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}