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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: 1-197040668-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197040668&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "F13B",
"hgnc_id": 3534,
"hgvs_c": "c.1806T>C",
"hgvs_p": "p.Asn602Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001994.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 787108,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": " b subunit, deficiency of,Factor XIII,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1806,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001994.3",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1806T>C",
"hgvs_p": "p.Asn602Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367412.2",
"protein_coding": true,
"protein_id": "NP_001985.2",
"strand": false,
"transcript": "NM_001994.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1806,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000367412.2",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1806T>C",
"hgvs_p": "p.Asn602Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001994.3",
"protein_coding": true,
"protein_id": "ENSP00000356382.2",
"strand": false,
"transcript": "ENST00000367412.2",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 600,
"aa_ref": "N",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1623,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000895404.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1623T>C",
"hgvs_p": "p.Asn541Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565463.1",
"strand": false,
"transcript": "ENST00000895404.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 594,
"aa_ref": "N",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2459,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1605,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000895399.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1605T>C",
"hgvs_p": "p.Asn535Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565458.1",
"strand": false,
"transcript": "ENST00000895399.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 533,
"aa_ref": "N",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1422,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000895402.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1422T>C",
"hgvs_p": "p.Asn474Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565461.1",
"strand": false,
"transcript": "ENST00000895402.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "N",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1218,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895401.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1218T>C",
"hgvs_p": "p.Asn406Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565460.1",
"strand": false,
"transcript": "ENST00000895401.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 246,
"aa_ref": "N",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": 561,
"cds_end": null,
"cds_length": 741,
"cds_start": 561,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000649282.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.561T>C",
"hgvs_p": "p.Asn187Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497116.1",
"strand": false,
"transcript": "ENST00000649282.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 164,
"aa_ref": "N",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 340,
"cds_end": null,
"cds_length": 495,
"cds_start": 315,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000895400.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.315T>C",
"hgvs_p": "p.Asn105Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565459.1",
"strand": false,
"transcript": "ENST00000895400.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 103,
"aa_ref": "N",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 536,
"cdna_start": 157,
"cds_end": null,
"cds_length": 312,
"cds_start": 132,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000895403.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.132T>C",
"hgvs_p": "p.Asn44Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565462.1",
"strand": false,
"transcript": "ENST00000895403.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 676,
"aa_ref": "N",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1806,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011509283.3",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1806T>C",
"hgvs_p": "p.Asn602Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507585.1",
"strand": false,
"transcript": "XM_011509283.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 675,
"aa_ref": "N",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1803,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011509284.3",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1803T>C",
"hgvs_p": "p.Asn601Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507586.1",
"strand": false,
"transcript": "XM_011509284.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 660,
"aa_ref": "N",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1803,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047449422.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1803T>C",
"hgvs_p": "p.Asn601Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305378.1",
"strand": false,
"transcript": "XM_047449422.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 628,
"aa_ref": "N",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1662,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011509286.3",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Asn554Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507588.1",
"strand": false,
"transcript": "XM_011509286.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 591,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7424,
"cdna_start": null,
"cds_end": null,
"cds_length": 1776,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047449423.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "c.*5465T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305379.1",
"strand": false,
"transcript": "XM_047449423.1",
"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": 596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000490002.1",
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"hgvs_c": "n.217T>C",
"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": "ENST00000490002.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs5998",
"effect": "synonymous_variant",
"frequency_reference_population": 0.4884216,
"gene_hgnc_id": 3534,
"gene_symbol": "F13B",
"gnomad_exomes_ac": 719945,
"gnomad_exomes_af": 0.493215,
"gnomad_exomes_homalt": 184078,
"gnomad_genomes_ac": 67163,
"gnomad_genomes_af": 0.442339,
"gnomad_genomes_homalt": 16615,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 200693,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Factor XIII, b subunit, deficiency of|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.43,
"pos": 197040668,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001994.3"
}
]
}