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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: 17-10729800-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=10729800&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 10729800,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001004313.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "NM_001004313.3",
"protein_id": "NP_001004313.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 160,
"cds_start": 52,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341871.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004313.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000341871.8",
"protein_id": "ENSP00000339830.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 160,
"cds_start": 52,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004313.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341871.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000455996.6",
"protein_id": "ENSP00000396973.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 150,
"cds_start": 52,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455996.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000857803.1",
"protein_id": "ENSP00000527862.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 185,
"cds_start": 52,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857803.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000857804.1",
"protein_id": "ENSP00000527863.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 175,
"cds_start": 52,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857804.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000857806.1",
"protein_id": "ENSP00000527865.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 172,
"cds_start": 52,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857806.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000857805.1",
"protein_id": "ENSP00000527864.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 165,
"cds_start": 52,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857805.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000857808.1",
"protein_id": "ENSP00000527867.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 159,
"cds_start": 52,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857808.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000857807.1",
"protein_id": "ENSP00000527866.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 155,
"cds_start": 52,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857807.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "NM_001359647.2",
"protein_id": "NP_001346576.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 154,
"cds_start": 52,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001359647.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "NM_001330139.3",
"protein_id": "NP_001317068.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 150,
"cds_start": 52,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330139.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000857802.1",
"protein_id": "ENSP00000527861.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 140,
"cds_start": 52,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857802.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "NM_001330140.3",
"protein_id": "NP_001317069.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 52,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330140.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "ENST00000578345.1",
"protein_id": "ENSP00000462723.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 130,
"cds_start": 52,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578345.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "XM_017024616.2",
"protein_id": "XP_016880105.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 164,
"cds_start": 52,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024616.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "XM_047435960.1",
"protein_id": "XP_047291916.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 157,
"cds_start": 52,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435960.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro",
"transcript": "XM_011523835.3",
"protein_id": "XP_011522137.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 140,
"cds_start": 52,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523835.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220-AS1",
"gene_hgnc_id": 44357,
"hgvs_c": "n.14C>G",
"hgvs_p": null,
"transcript": "ENST00000579114.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000579114.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220-AS1",
"gene_hgnc_id": 44357,
"hgvs_c": "n.5C>G",
"hgvs_p": null,
"transcript": "ENST00000580899.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000580899.1"
},
{
"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": "TMEM220-AS1",
"gene_hgnc_id": 44357,
"hgvs_c": "n.51C>G",
"hgvs_p": null,
"transcript": "ENST00000581366.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000581366.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220-AS1",
"gene_hgnc_id": 44357,
"hgvs_c": "n.5C>G",
"hgvs_p": null,
"transcript": "ENST00000583115.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000583115.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220-AS1",
"gene_hgnc_id": 44357,
"hgvs_c": "n.10C>G",
"hgvs_p": null,
"transcript": "ENST00000583343.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000583343.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000742817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220-AS1",
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"hgvs_c": "n.-1C>G",
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"transcript": "ENST00000742819.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000742819.1"
}
],
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"dbsnp": "rs763659556",
"frequency_reference_population": 0.0000031801458,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000318015,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3030132055282593,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.317,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.774,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.901,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001004313.3",
"gene_symbol": "TMEM220",
"hgnc_id": 33757,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Ala18Pro"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000581366.6",
"gene_symbol": "TMEM220-AS1",
"hgnc_id": 44357,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.51C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}