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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: 15-52600171-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52600171&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52600171,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286495.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "NM_001385016.1",
"protein_id": "NP_001371945.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619572.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385016.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "ENST00000619572.5",
"protein_id": "ENSP00000484641.1",
"transcript_support_level": 1,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385016.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619572.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "ENST00000261844.11",
"protein_id": "ENSP00000261844.7",
"transcript_support_level": 1,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261844.11"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2341A>G",
"hgvs_p": "p.Ser781Gly",
"transcript": "ENST00000399202.8",
"protein_id": "ENSP00000382153.4",
"transcript_support_level": 1,
"aa_start": 781,
"aa_end": null,
"aa_length": 937,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399202.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2626A>G",
"hgvs_p": "p.Ser876Gly",
"transcript": "NM_001286495.2",
"protein_id": "NP_001273424.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2626,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286495.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2626A>G",
"hgvs_p": "p.Ser876Gly",
"transcript": "NM_001385019.1",
"protein_id": "NP_001371948.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2626,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385019.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2626A>G",
"hgvs_p": "p.Ser876Gly",
"transcript": "ENST00000546305.6",
"protein_id": "ENSP00000443598.2",
"transcript_support_level": 2,
"aa_start": 876,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2626,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546305.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "NM_001385013.1",
"protein_id": "NP_001371942.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385013.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "NM_001385014.1",
"protein_id": "NP_001371943.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385014.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "NM_001385015.1",
"protein_id": "NP_001371944.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385015.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "NM_001385017.1",
"protein_id": "NP_001371946.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385017.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "NM_001385018.1",
"protein_id": "NP_001371947.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385018.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "NM_019600.4",
"protein_id": "NP_062546.2",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019600.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "ENST00000899912.1",
"protein_id": "ENSP00000569971.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899912.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "ENST00000922188.1",
"protein_id": "ENSP00000592247.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922188.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "ENST00000922189.1",
"protein_id": "ENSP00000592248.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922189.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "ENST00000946907.1",
"protein_id": "ENSP00000616966.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946907.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2605A>G",
"hgvs_p": "p.Ser869Gly",
"transcript": "ENST00000946908.1",
"protein_id": "ENSP00000616967.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946908.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2626A>G",
"hgvs_p": "p.Ser876Gly",
"transcript": "NM_001385020.1",
"protein_id": "NP_001371949.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2626,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385020.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2341A>G",
"hgvs_p": "p.Ser781Gly",
"transcript": "NM_001385022.1",
"protein_id": "NP_001371951.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 988,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385022.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.2341A>G",
"hgvs_p": "p.Ser781Gly",
"transcript": "NM_001385023.1",
"protein_id": "NP_001371952.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 988,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385023.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Ser48Gly",
"transcript": "ENST00000568637.5",
"protein_id": "ENSP00000458036.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 220,
"cds_start": 142,
"cds_end": null,
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"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"hgvs_c": "n.2695+915A>G",
"hgvs_p": null,
"transcript": "NR_169552.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_169552.1"
}
],
"gene_symbol": "ATOSA",
"gene_hgnc_id": 25609,
"dbsnp": "rs755222965",
"frequency_reference_population": 0.000021924867,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000219249,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24095508456230164,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.2366,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.99,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286495.2",
"gene_symbol": "ATOSA",
"hgnc_id": 25609,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2626A>G",
"hgvs_p": "p.Ser876Gly"
}
],
"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
}