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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: 13-45401092-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=45401092&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 45401092,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001010875.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "NM_001010875.4",
"protein_id": "NP_001010875.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": "ENST00000519676.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010875.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "ENST00000519676.6",
"protein_id": "ENSP00000429168.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3663,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "n.*343C>A",
"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": 1094,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "n.*343C>A",
"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": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000310862.11"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Thr211Asn",
"transcript": "ENST00000857533.1",
"protein_id": "ENSP00000527592.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 300,
"cds_start": 632,
"cds_end": null,
"cds_length": 903,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857533.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "ENST00000857529.1",
"protein_id": "ENSP00000527588.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857529.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "ENST00000857530.1",
"protein_id": "ENSP00000527589.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857530.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "ENST00000857531.1",
"protein_id": "ENSP00000527590.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857531.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "ENST00000857534.1",
"protein_id": "ENSP00000527593.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857534.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "ENST00000857535.1",
"protein_id": "ENSP00000527594.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857535.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "ENST00000857532.1",
"protein_id": "ENSP00000527591.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 264,
"cds_start": 605,
"cds_end": null,
"cds_length": 795,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857532.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.452C>A",
"hgvs_p": "p.Thr151Asn",
"transcript": "NM_001286806.2",
"protein_id": "NP_001273735.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 240,
"cds_start": 452,
"cds_end": null,
"cds_length": 723,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286806.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.452C>A",
"hgvs_p": "p.Thr151Asn",
"transcript": "ENST00000539591.5",
"protein_id": "ENSP00000443542.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 240,
"cds_start": 452,
"cds_end": null,
"cds_length": 723,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539591.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.380C>A",
"hgvs_p": "p.Thr127Asn",
"transcript": "NM_001286807.2",
"protein_id": "NP_001273736.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 216,
"cds_start": 380,
"cds_end": null,
"cds_length": 651,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286807.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.362C>A",
"hgvs_p": "p.Thr121Asn",
"transcript": "ENST00000954031.1",
"protein_id": "ENSP00000624090.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 210,
"cds_start": 362,
"cds_end": null,
"cds_length": 633,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954031.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Thr66Asn",
"transcript": "ENST00000618165.1",
"protein_id": "ENSP00000480455.1",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 118,
"cds_start": 197,
"cds_end": null,
"cds_length": 357,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618165.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "XM_005266321.3",
"protein_id": "XP_005266378.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 293,
"cds_start": 605,
"cds_end": null,
"cds_length": 882,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266321.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "XM_006719793.5",
"protein_id": "XP_006719856.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 293,
"cds_start": 605,
"cds_end": null,
"cds_length": 882,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719793.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "XM_006719794.3",
"protein_id": "XP_006719857.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 293,
"cds_start": 605,
"cds_end": null,
"cds_length": 882,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719794.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "XM_017020523.2",
"protein_id": "XP_016876012.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 293,
"cds_start": 605,
"cds_end": null,
"cds_length": 882,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020523.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "XM_017020524.3",
"protein_id": "XP_016876013.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020524.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A30",
"gene_hgnc_id": 27371,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Thr202Asn",
"transcript": "XM_047430241.1",
"protein_id": "XP_047286197.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
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"cds_start": 605,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"acmg_by_gene": [
{
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"PP3"
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}