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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: 13-45397308-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=45397308&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 45397308,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001010875.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "NM_001010875.4",
"protein_id": "NP_001010875.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000519676.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010875.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "ENST00000519676.6",
"protein_id": "ENSP00000429168.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010875.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519676.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "n.*522T>C",
"hgvs_p": null,
"transcript": "ENST00000310862.11",
"protein_id": "ENSP00000311856.7",
"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": "ENST00000310862.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "n.*522T>C",
"hgvs_p": null,
"transcript": "ENST00000310862.11",
"protein_id": "ENSP00000311856.7",
"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": "ENST00000310862.11"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.811T>C",
"hgvs_p": "p.Tyr271His",
"transcript": "ENST00000857533.1",
"protein_id": "ENSP00000527592.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 300,
"cds_start": 811,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857533.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "ENST00000857529.1",
"protein_id": "ENSP00000527588.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857529.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "ENST00000857530.1",
"protein_id": "ENSP00000527589.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857530.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "ENST00000857531.1",
"protein_id": "ENSP00000527590.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857531.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "ENST00000857534.1",
"protein_id": "ENSP00000527593.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857534.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "ENST00000857535.1",
"protein_id": "ENSP00000527594.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857535.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Tyr211His",
"transcript": "NM_001286806.2",
"protein_id": "NP_001273735.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 240,
"cds_start": 631,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286806.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Tyr211His",
"transcript": "ENST00000539591.5",
"protein_id": "ENSP00000443542.1",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 240,
"cds_start": 631,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539591.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.559T>C",
"hgvs_p": "p.Tyr187His",
"transcript": "NM_001286807.2",
"protein_id": "NP_001273736.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 216,
"cds_start": 559,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286807.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Tyr181His",
"transcript": "ENST00000954031.1",
"protein_id": "ENSP00000624090.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 210,
"cds_start": 541,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954031.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "XM_017020524.3",
"protein_id": "XP_016876013.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020524.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "XM_047430241.1",
"protein_id": "XP_047286197.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 784,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.754-1293T>C",
"hgvs_p": null,
"transcript": "ENST00000857532.1",
"protein_id": "ENSP00000527591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.754-990T>C",
"hgvs_p": null,
"transcript": "XM_005266321.3",
"protein_id": "XP_005266378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266321.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.754-990T>C",
"hgvs_p": null,
"transcript": "XM_006719793.5",
"protein_id": "XP_006719856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719793.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.754-990T>C",
"hgvs_p": null,
"transcript": "XM_006719794.3",
"protein_id": "XP_006719857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719794.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.754-990T>C",
"hgvs_p": null,
"transcript": "XM_017020523.2",
"protein_id": "XP_016876012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020523.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "n.2049T>C",
"hgvs_p": null,
"transcript": "ENST00000523988.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000523988.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TPT1-AS1",
"gene_hgnc_id": 43686,
"hgvs_c": "n.457+5118A>G",
"hgvs_p": null,
"transcript": "ENST00000661291.1",
"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": "ENST00000661291.1"
}
],
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"dbsnp": "rs781522993",
"frequency_reference_population": 0.000030384017,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000246499,
"gnomad_genomes_af": 0.0000853915,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8742538094520569,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.911,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9326,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.841,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.19,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001010875.4",
"gene_symbol": "SLC25A30",
"hgnc_id": 27371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000661291.1",
"gene_symbol": "TPT1-AS1",
"hgnc_id": 43686,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.457+5118A>G",
"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
}