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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: 19-43732907-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43732907&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43732907,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_019108.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "NM_019108.4",
"protein_id": "NP_061981.2",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 520,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270066.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019108.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "ENST00000270066.11",
"protein_id": "ENSP00000270066.6",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 520,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019108.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270066.11"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1528T>C",
"hgvs_p": "p.Ser510Pro",
"transcript": "ENST00000892518.1",
"protein_id": "ENSP00000562577.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 551,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892518.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1501T>C",
"hgvs_p": "p.Ser501Pro",
"transcript": "ENST00000892519.1",
"protein_id": "ENSP00000562578.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 542,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892519.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1426T>C",
"hgvs_p": "p.Ser476Pro",
"transcript": "ENST00000892517.1",
"protein_id": "ENSP00000562576.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 517,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892517.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Ser463Pro",
"transcript": "ENST00000892520.1",
"protein_id": "ENSP00000562579.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 504,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892520.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1378T>C",
"hgvs_p": "p.Ser460Pro",
"transcript": "ENST00000936242.1",
"protein_id": "ENSP00000606301.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 501,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936242.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1378T>C",
"hgvs_p": "p.Ser460Pro",
"transcript": "ENST00000936243.1",
"protein_id": "ENSP00000606302.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 501,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936243.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "ENST00000601170.5",
"protein_id": "ENSP00000471398.1",
"transcript_support_level": 2,
"aa_start": 479,
"aa_end": null,
"aa_length": 495,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601170.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1360T>C",
"hgvs_p": "p.Ser454Pro",
"transcript": "ENST00000963699.1",
"protein_id": "ENSP00000633758.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 495,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963699.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1210T>C",
"hgvs_p": "p.Ser404Pro",
"transcript": "ENST00000963698.1",
"protein_id": "ENSP00000633757.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 445,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963698.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "XM_005259057.4",
"protein_id": "XP_005259114.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 521,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259057.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "XM_011527113.2",
"protein_id": "XP_011525415.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 521,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527113.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "XM_011527114.2",
"protein_id": "XP_011525416.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 521,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527114.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "XM_011527115.2",
"protein_id": "XP_011525417.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 521,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527115.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "XM_011527116.2",
"protein_id": "XP_011525418.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 521,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527116.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro",
"transcript": "XM_047439098.1",
"protein_id": "XP_047295054.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 521,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439098.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "c.703T>C",
"hgvs_p": "p.Ser235Pro",
"transcript": "XM_047439099.1",
"protein_id": "XP_047295055.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 277,
"cds_start": 703,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439099.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"hgvs_c": "n.204T>C",
"hgvs_p": null,
"transcript": "ENST00000600097.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000600097.1"
}
],
"gene_symbol": "SMG9",
"gene_hgnc_id": 25763,
"dbsnp": "rs112534097",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4502715468406677,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.9818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.807,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019108.4",
"gene_symbol": "SMG9",
"hgnc_id": 25763,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Ser479Pro"
}
],
"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
}