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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: 20-1180919-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1180919&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1180919,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018354.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "NM_001304748.2",
"protein_id": "NP_001291677.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429036.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304748.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000429036.2",
"protein_id": "ENSP00000400552.2",
"transcript_support_level": 3,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001304748.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429036.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000381894.3",
"protein_id": "ENSP00000371318.3",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381894.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "NM_001387330.1",
"protein_id": "NP_001374259.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387330.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "NM_001387331.1",
"protein_id": "NP_001374260.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387331.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "NM_001387332.1",
"protein_id": "NP_001374261.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387332.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "NM_001387333.1",
"protein_id": "NP_001374262.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387333.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "NM_001387334.1",
"protein_id": "NP_001374263.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387334.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "NM_018354.3",
"protein_id": "NP_060824.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018354.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000866484.1",
"protein_id": "ENSP00000536543.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866484.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000866486.1",
"protein_id": "ENSP00000536544.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866486.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000866487.1",
"protein_id": "ENSP00000536546.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866487.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000935819.1",
"protein_id": "ENSP00000605878.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935819.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000935820.1",
"protein_id": "ENSP00000605879.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935820.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000964217.1",
"protein_id": "ENSP00000634276.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964217.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000964218.1",
"protein_id": "ENSP00000634277.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964218.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000964219.1",
"protein_id": "ENSP00000634278.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964219.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Gly234Trp",
"transcript": "ENST00000964220.1",
"protein_id": "ENSP00000634279.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 256,
"cds_start": 700,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964220.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Gly210Trp",
"transcript": "NM_001304749.2",
"protein_id": "NP_001291678.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 232,
"cds_start": 628,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304749.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Gly210Trp",
"transcript": "NM_001387329.1",
"protein_id": "NP_001374258.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 232,
"cds_start": 628,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387329.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Gly291Trp",
"transcript": "XM_011529281.3",
"protein_id": "XP_011527583.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 313,
"cds_start": 871,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529281.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.796G>T",
"hgvs_p": "p.Gly266Trp",
"transcript": "XM_017027923.2",
"protein_id": "XP_016883412.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 288,
"cds_start": 796,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"feature": "XM_017027923.2"
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{
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"verdict": "Uncertain_significance",
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{
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],
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}