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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: 1-197040592-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197040592&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197040592,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001994.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1882A>T",
"hgvs_p": "p.Thr628Ser",
"transcript": "NM_001994.3",
"protein_id": "NP_001985.2",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 661,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367412.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001994.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1882A>T",
"hgvs_p": "p.Thr628Ser",
"transcript": "ENST00000367412.2",
"protein_id": "ENSP00000356382.2",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 661,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001994.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367412.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1699A>T",
"hgvs_p": "p.Thr567Ser",
"transcript": "ENST00000895404.1",
"protein_id": "ENSP00000565463.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 600,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895404.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1681A>T",
"hgvs_p": "p.Thr561Ser",
"transcript": "ENST00000895399.1",
"protein_id": "ENSP00000565458.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 594,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895399.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1498A>T",
"hgvs_p": "p.Thr500Ser",
"transcript": "ENST00000895402.1",
"protein_id": "ENSP00000565461.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 533,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895402.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1294A>T",
"hgvs_p": "p.Thr432Ser",
"transcript": "ENST00000895401.1",
"protein_id": "ENSP00000565460.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 465,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895401.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.637A>T",
"hgvs_p": "p.Thr213Ser",
"transcript": "ENST00000649282.1",
"protein_id": "ENSP00000497116.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 246,
"cds_start": 637,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649282.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.391A>T",
"hgvs_p": "p.Thr131Ser",
"transcript": "ENST00000895400.1",
"protein_id": "ENSP00000565459.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 164,
"cds_start": 391,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895400.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.208A>T",
"hgvs_p": "p.Thr70Ser",
"transcript": "ENST00000895403.1",
"protein_id": "ENSP00000565462.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 103,
"cds_start": 208,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895403.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1882A>T",
"hgvs_p": "p.Thr628Ser",
"transcript": "XM_011509283.3",
"protein_id": "XP_011507585.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 676,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509283.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1879A>T",
"hgvs_p": "p.Thr627Ser",
"transcript": "XM_011509284.3",
"protein_id": "XP_011507586.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 675,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509284.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1879A>T",
"hgvs_p": "p.Thr627Ser",
"transcript": "XM_047449422.1",
"protein_id": "XP_047305378.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 660,
"cds_start": 1879,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449422.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1738A>T",
"hgvs_p": "p.Thr580Ser",
"transcript": "XM_011509286.3",
"protein_id": "XP_011507588.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 628,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509286.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.*5541A>T",
"hgvs_p": null,
"transcript": "XM_047449423.1",
"protein_id": "XP_047305379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": null,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "n.293A>T",
"hgvs_p": null,
"transcript": "ENST00000490002.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490002.1"
}
],
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"dbsnp": "rs750551312",
"frequency_reference_population": 0.0000012405039,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84823e-7,
"gnomad_genomes_af": 0.00000657825,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04760673642158508,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0669,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.956,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001994.3",
"gene_symbol": "F13B",
"hgnc_id": 3534,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1882A>T",
"hgvs_p": "p.Thr628Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}