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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: 7-77920356-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=77920356&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHTF2",
"hgnc_id": 13411,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001366089.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2464,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22035470604896545,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": 986,
"cds_end": null,
"cds_length": 2256,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001395272.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000422959.8",
"protein_coding": true,
"protein_id": "NP_001382201.1",
"strand": true,
"transcript": "NM_001395272.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": 986,
"cds_end": null,
"cds_length": 2256,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000422959.8",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395272.1",
"protein_coding": true,
"protein_id": "ENSP00000403042.2",
"strand": true,
"transcript": "ENST00000422959.8",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 785,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": 930,
"cds_end": null,
"cds_length": 2358,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000248550.7",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000248550.7",
"strand": true,
"transcript": "ENST00000248550.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 942,
"cds_end": null,
"cds_length": 2244,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000307305.12",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307699.8",
"strand": true,
"transcript": "ENST00000307305.12",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 695,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": 846,
"cds_end": null,
"cds_length": 2088,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000275575.11",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000275575.7",
"strand": true,
"transcript": "ENST00000275575.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 356,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1071,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000450574.5",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387355.1",
"strand": true,
"transcript": "ENST00000450574.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 352,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1059,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000415251.6",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408035.2",
"strand": true,
"transcript": "ENST00000415251.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000454592.5",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "n.775C>T",
"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": "ENST00000454592.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 785,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5112,
"cdna_start": 982,
"cds_end": null,
"cds_length": 2358,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001366089.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353018.1",
"strand": true,
"transcript": "NM_001366089.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 785,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 2358,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000416283.6",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400958.3",
"strand": true,
"transcript": "ENST00000416283.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 781,
"aa_ref": "T",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4822,
"cdna_start": 974,
"cds_end": null,
"cds_length": 2346,
"cds_start": 842,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888885.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Thr281Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558944.1",
"strand": true,
"transcript": "ENST00000888885.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5010,
"cdna_start": 880,
"cds_end": null,
"cds_length": 2256,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001127357.2",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120829.1",
"strand": true,
"transcript": "NM_001127357.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 751,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": 869,
"cds_end": null,
"cds_length": 2256,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000968118.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638177.1",
"strand": true,
"transcript": "ENST00000968118.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5104,
"cdna_start": 974,
"cds_end": null,
"cds_length": 2244,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001127358.2",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120830.1",
"strand": true,
"transcript": "NM_001127358.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5018,
"cdna_start": 888,
"cds_end": null,
"cds_length": 2244,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001366086.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353015.1",
"strand": true,
"transcript": "NM_001366086.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4998,
"cdna_start": 868,
"cds_end": null,
"cds_length": 2244,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020432.5",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065165.3",
"strand": true,
"transcript": "NM_020432.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": 900,
"cds_end": null,
"cds_length": 2244,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888886.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558945.1",
"strand": true,
"transcript": "ENST00000888886.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 747,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 866,
"cds_end": null,
"cds_length": 2244,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000888889.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558948.1",
"strand": true,
"transcript": "ENST00000888889.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 728,
"aa_ref": "T",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 812,
"cds_end": null,
"cds_length": 2187,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000888887.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Thr228Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558946.1",
"strand": true,
"transcript": "ENST00000888887.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 920,
"cds_end": null,
"cds_length": 2157,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000968114.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638173.1",
"strand": true,
"transcript": "ENST00000968114.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 708,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 986,
"cds_end": null,
"cds_length": 2127,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001395271.1",
"gene_hgnc_id": 13411,
"gene_symbol": "PHTF2",
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