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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: 17-82398213-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82398213&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OGFOD3",
"hgnc_id": 26174,
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_175902.5",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000308980",
"hgnc_id": null,
"hgvs_c": "n.798G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "ENST00000837649.1",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124904090",
"hgnc_id": null,
"hgvs_c": "n.1035G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "XR_007065955.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 230,
"alphamissense_prediction": null,
"alphamissense_score": 0.2139,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3867374658584595,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 319,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4249,
"cdna_start": 907,
"cds_end": null,
"cds_length": 960,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_024648.3",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313056.10",
"protein_coding": true,
"protein_id": "NP_078924.1",
"strand": false,
"transcript": "NM_024648.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 319,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4249,
"cdna_start": 907,
"cds_end": null,
"cds_length": 960,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000313056.10",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024648.3",
"protein_coding": true,
"protein_id": "ENSP00000320116.5",
"strand": false,
"transcript": "ENST00000313056.10",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 331,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 897,
"cds_end": null,
"cds_length": 996,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000329197.9",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330075.5",
"strand": false,
"transcript": "ENST00000329197.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1274,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000580445.5",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "n.*417C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463566.1",
"strand": false,
"transcript": "ENST00000580445.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1274,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000580445.5",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "n.*417C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463566.1",
"strand": false,
"transcript": "ENST00000580445.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 361,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1363,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1086,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949676.1",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619735.1",
"strand": false,
"transcript": "ENST00000949676.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 337,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1314,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1014,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851499.1",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521558.1",
"strand": false,
"transcript": "ENST00000851499.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 331,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4462,
"cdna_start": 907,
"cds_end": null,
"cds_length": 996,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_175902.5",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_787098.3",
"strand": false,
"transcript": "NM_175902.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 291,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1172,
"cdna_start": 844,
"cds_end": null,
"cds_length": 876,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851500.1",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521559.1",
"strand": false,
"transcript": "ENST00000851500.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 285,
"aa_ref": "T",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 830,
"cds_end": null,
"cds_length": 858,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851497.1",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Thr235Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521556.1",
"strand": false,
"transcript": "ENST00000851497.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 283,
"aa_ref": "T",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 787,
"cds_end": null,
"cds_length": 852,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851498.1",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Thr233Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521557.1",
"strand": false,
"transcript": "ENST00000851498.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 240,
"aa_ref": "T",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 896,
"cdna_start": 570,
"cds_end": null,
"cds_length": 723,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000583897.5",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Thr190Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464195.1",
"strand": false,
"transcript": "ENST00000583897.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 217,
"aa_ref": "T",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 657,
"cdna_start": 333,
"cds_end": null,
"cds_length": 656,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000583445.5",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467074.1",
"strand": false,
"transcript": "ENST00000583445.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 94,
"aa_ref": "T",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 385,
"cdna_start": 138,
"cds_end": null,
"cds_length": 285,
"cds_start": 137,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000582593.1",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.137C>T",
"hgvs_p": "p.Thr46Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466117.1",
"strand": false,
"transcript": "ENST00000582593.1",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 14,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 872,
"cdna_start": 855,
"cds_end": null,
"cds_length": 46,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000577495.5",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Thr10Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466184.1",
"strand": false,
"transcript": "ENST00000577495.5",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 319,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3963,
"cdna_start": 907,
"cds_end": null,
"cds_length": 960,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047436759.1",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Thr269Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292715.1",
"strand": false,
"transcript": "XM_047436759.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579407.5",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "n.661C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000579407.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000837649.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000308980",
"hgvs_c": "n.798G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000837649.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4454,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_033265.2",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "n.899C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_033265.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_007065458.1",
"gene_hgnc_id": 26174,
"gene_symbol": "OGFOD3",
"hgvs_c": "n.907C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007065458.1",
"transcript_support_level": null
},
{
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]
}