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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: 12-108523569-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=108523569&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 108523569,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410983.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Ala927Gly",
"transcript": "NM_014706.4",
"protein_id": "NP_055521.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 963,
"cds_start": 2780,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000546815.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014706.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Ala927Gly",
"transcript": "ENST00000546815.6",
"protein_id": "ENSP00000449386.2",
"transcript_support_level": 5,
"aa_start": 927,
"aa_end": null,
"aa_length": 963,
"cds_start": 2780,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014706.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546815.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2834C>G",
"hgvs_p": "p.Ala945Gly",
"transcript": "ENST00000228284.8",
"protein_id": "ENSP00000228284.4",
"transcript_support_level": 1,
"aa_start": 945,
"aa_end": null,
"aa_length": 981,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228284.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2672C>G",
"hgvs_p": "p.Ala891Gly",
"transcript": "ENST00000431469.6",
"protein_id": "ENSP00000414453.2",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 927,
"cds_start": 2672,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431469.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "n.*1674C>G",
"hgvs_p": null,
"transcript": "ENST00000546728.5",
"protein_id": "ENSP00000449743.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000546728.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "n.*1674C>G",
"hgvs_p": null,
"transcript": "ENST00000546728.5",
"protein_id": "ENSP00000449743.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000546728.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2834C>G",
"hgvs_p": "p.Ala945Gly",
"transcript": "NM_001410983.1",
"protein_id": "NP_001397912.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 981,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410983.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2804C>G",
"hgvs_p": "p.Ala935Gly",
"transcript": "ENST00000901890.1",
"protein_id": "ENSP00000571949.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 971,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901890.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2795C>G",
"hgvs_p": "p.Ala932Gly",
"transcript": "ENST00000901889.1",
"protein_id": "ENSP00000571948.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 968,
"cds_start": 2795,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901889.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2777C>G",
"hgvs_p": "p.Ala926Gly",
"transcript": "ENST00000929722.1",
"protein_id": "ENSP00000599781.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 962,
"cds_start": 2777,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929722.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2771C>G",
"hgvs_p": "p.Ala924Gly",
"transcript": "ENST00000901891.1",
"protein_id": "ENSP00000571950.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 960,
"cds_start": 2771,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901891.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2741C>G",
"hgvs_p": "p.Ala914Gly",
"transcript": "ENST00000901893.1",
"protein_id": "ENSP00000571952.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 950,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901893.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2624C>G",
"hgvs_p": "p.Ala875Gly",
"transcript": "ENST00000901888.1",
"protein_id": "ENSP00000571947.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 911,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901888.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2603C>G",
"hgvs_p": "p.Ala868Gly",
"transcript": "ENST00000963654.1",
"protein_id": "ENSP00000633713.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 904,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963654.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2522C>G",
"hgvs_p": "p.Ala841Gly",
"transcript": "ENST00000929723.1",
"protein_id": "ENSP00000599782.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 877,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929723.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2516C>G",
"hgvs_p": "p.Ala839Gly",
"transcript": "ENST00000929724.1",
"protein_id": "ENSP00000599783.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 875,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929724.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2360C>G",
"hgvs_p": "p.Ala787Gly",
"transcript": "ENST00000929726.1",
"protein_id": "ENSP00000599785.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 823,
"cds_start": 2360,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929726.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.2252C>G",
"hgvs_p": "p.Ala751Gly",
"transcript": "ENST00000929725.1",
"protein_id": "ENSP00000599784.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 787,
"cds_start": 2252,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929725.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.1763C>G",
"hgvs_p": "p.Ala588Gly",
"transcript": "ENST00000901892.1",
"protein_id": "ENSP00000571951.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 624,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901892.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "c.1916C>G",
"hgvs_p": "p.Ala639Gly",
"transcript": "XM_047429916.1",
"protein_id": "XP_047285872.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 675,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FICD",
"gene_hgnc_id": 18416,
"hgvs_c": "c.152-2020G>C",
"hgvs_p": null,
"transcript": "ENST00000549641.1",
"protein_id": "ENSP00000449989.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549641.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "n.*1936C>G",
"hgvs_p": null,
"transcript": "ENST00000651280.1",
"protein_id": "ENSP00000498612.1",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"hgvs_c": "n.*1936C>G",
"hgvs_p": null,
"transcript": "ENST00000651280.1",
"protein_id": "ENSP00000498612.1",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651280.1"
}
],
"gene_symbol": "SART3",
"gene_hgnc_id": 16860,
"dbsnp": "rs375684866",
"frequency_reference_population": 0.000040272913,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000396766,
"gnomad_genomes_af": 0.0000460012,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05235251784324646,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.259,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001410983.1",
"gene_symbol": "SART3",
"hgnc_id": 16860,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2834C>G",
"hgvs_p": "p.Ala945Gly"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000549641.1",
"gene_symbol": "FICD",
"hgnc_id": 18416,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.152-2020G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}