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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: 1-241504123-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241504123&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "FH",
"hgnc_id": 3700,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_000143.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Fumarase deficiency,Hereditary cancer-predisposing syndrome,Hereditary leiomyomatosis and renal cell cancer,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1027,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000143.4",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366560.4",
"protein_coding": true,
"protein_id": "NP_000134.2",
"strand": false,
"transcript": "NM_000143.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1027,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000366560.4",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000143.4",
"protein_coding": true,
"protein_id": "ENSP00000355518.4",
"strand": false,
"transcript": "ENST00000366560.4",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1604,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1024,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958409.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Arg342*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628468.1",
"strand": false,
"transcript": "ENST00000958409.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 494,
"aa_ref": "R",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1485,
"cds_start": 979,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932939.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602998.1",
"strand": false,
"transcript": "ENST00000932939.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1027,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683521.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506864.1",
"strand": false,
"transcript": "ENST00000683521.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1422,
"cds_start": 916,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865387.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535446.1",
"strand": false,
"transcript": "ENST00000865387.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 465,
"aa_ref": "R",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1398,
"cds_start": 892,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865385.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535444.1",
"strand": false,
"transcript": "ENST00000865385.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1027,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865388.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535447.1",
"strand": false,
"transcript": "ENST00000865388.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1356,
"cds_start": 850,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865386.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535445.1",
"strand": false,
"transcript": "ENST00000865386.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1350,
"cds_start": 844,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865389.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535448.1",
"strand": false,
"transcript": "ENST00000865389.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1245,
"cds_start": 739,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000958407.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628466.1",
"strand": false,
"transcript": "ENST00000958407.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1173,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865384.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535443.1",
"strand": false,
"transcript": "ENST00000865384.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 308,
"aa_ref": "R",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 476,
"cds_end": null,
"cds_length": 927,
"cds_start": 421,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958408.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628467.1",
"strand": false,
"transcript": "ENST00000958408.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 460,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": null,
"cds_end": null,
"cds_length": 1383,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958406.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.905-28C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628465.1",
"strand": false,
"transcript": "ENST00000958406.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865390.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "c.905-1553C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535449.1",
"strand": false,
"transcript": "ENST00000865390.1",
"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": 2353,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000493477.2",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "n.1530C>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": "ENST00000493477.2",
"transcript_support_level": 3
},
{
"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": 1802,
"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": "ENST00000682162.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "n.*870C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508203.1",
"strand": false,
"transcript": "ENST00000682162.1",
"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": 5122,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000682567.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "n.1104C>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": "ENST00000682567.1",
"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": 2995,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684161.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "n.2242C>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": "ENST00000684161.1",
"transcript_support_level": null
},
{
"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": 1818,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684483.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "n.*423C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507894.1",
"strand": false,
"transcript": "ENST00000684483.1",
"transcript_support_level": null
},
{
"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": 1802,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682162.1",
"gene_hgnc_id": 3700,
"gene_symbol": "FH",
"hgvs_c": "n.*870C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508203.1",
"strand": false,
"transcript": "ENST00000682162.1",
"transcript_support_level": null
},
{
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],
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"protein_id": "ENSP00000507894.1",
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}
],
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Hereditary leiomyomatosis and renal cell cancer;Fumarase deficiency|Fumarase deficiency",
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"transcript": "NM_000143.4"
}
]
}