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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: 13-101055429-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=101055429&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 101055429,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000251127.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.5083A>C",
"hgvs_p": "p.Thr1695Pro",
"transcript": "NM_052867.4",
"protein_id": "NP_443099.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1738,
"cds_start": 5083,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 5318,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": "ENST00000251127.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.5083A>C",
"hgvs_p": "p.Thr1695Pro",
"transcript": "ENST00000251127.11",
"protein_id": "ENSP00000251127.6",
"transcript_support_level": 1,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1738,
"cds_start": 5083,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 5318,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": "NM_052867.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.5170A>C",
"hgvs_p": "p.Thr1724Pro",
"transcript": "NM_001350748.2",
"protein_id": "NP_001337677.1",
"transcript_support_level": null,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1767,
"cds_start": 5170,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 5405,
"cdna_end": null,
"cdna_length": 7058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.5170A>C",
"hgvs_p": "p.Thr1724Pro",
"transcript": "ENST00000675332.1",
"protein_id": "ENSP00000501955.1",
"transcript_support_level": null,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1767,
"cds_start": 5170,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 5344,
"cdna_end": null,
"cdna_length": 6958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.5083A>C",
"hgvs_p": "p.Thr1695Pro",
"transcript": "NM_001350749.2",
"protein_id": "NP_001337678.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1738,
"cds_start": 5083,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 5195,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.4996A>C",
"hgvs_p": "p.Thr1666Pro",
"transcript": "NM_001350750.2",
"protein_id": "NP_001337679.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4996,
"cds_end": null,
"cds_length": 5130,
"cdna_start": 5231,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.4996A>C",
"hgvs_p": "p.Thr1666Pro",
"transcript": "NM_001350751.2",
"protein_id": "NP_001337680.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4996,
"cds_end": null,
"cds_length": 5130,
"cdna_start": 5108,
"cdna_end": null,
"cdna_length": 6761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.4996A>C",
"hgvs_p": "p.Thr1666Pro",
"transcript": "ENST00000676315.1",
"protein_id": "ENSP00000501603.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1709,
"cds_start": 4996,
"cds_end": null,
"cds_length": 5130,
"cdna_start": 5197,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.4804A>C",
"hgvs_p": "p.Thr1602Pro",
"transcript": "ENST00000675150.1",
"protein_id": "ENSP00000502680.1",
"transcript_support_level": null,
"aa_start": 1602,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4804,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 4902,
"cdna_end": null,
"cdna_length": 6548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.5227A>C",
"hgvs_p": "p.Thr1743Pro",
"transcript": "XM_024449336.2",
"protein_id": "XP_024305104.1",
"transcript_support_level": null,
"aa_start": 1743,
"aa_end": null,
"aa_length": 1786,
"cds_start": 5227,
"cds_end": null,
"cds_length": 5361,
"cdna_start": 5272,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.5140A>C",
"hgvs_p": "p.Thr1714Pro",
"transcript": "XM_011521067.3",
"protein_id": "XP_011519369.1",
"transcript_support_level": null,
"aa_start": 1714,
"aa_end": null,
"aa_length": 1757,
"cds_start": 5140,
"cds_end": null,
"cds_length": 5274,
"cdna_start": 5185,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.5053A>C",
"hgvs_p": "p.Thr1685Pro",
"transcript": "XM_011521069.3",
"protein_id": "XP_011519371.1",
"transcript_support_level": null,
"aa_start": 1685,
"aa_end": null,
"aa_length": 1728,
"cds_start": 5053,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 5098,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.4636A>C",
"hgvs_p": "p.Thr1546Pro",
"transcript": "XM_017020536.3",
"protein_id": "XP_016876025.1",
"transcript_support_level": null,
"aa_start": 1546,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4636,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 5021,
"cdna_end": null,
"cdna_length": 6674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "c.4318A>C",
"hgvs_p": "p.Thr1440Pro",
"transcript": "XM_017020537.2",
"protein_id": "XP_016876026.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1483,
"cds_start": 4318,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 4413,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN-AS1",
"gene_hgnc_id": 42743,
"hgvs_c": "n.753T>G",
"hgvs_p": null,
"transcript": "ENST00000457843.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "n.*703A>C",
"hgvs_p": null,
"transcript": "ENST00000648359.1",
"protein_id": "ENSP00000497465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN-AS1",
"gene_hgnc_id": 42743,
"hgvs_c": "n.753T>G",
"hgvs_p": null,
"transcript": "NR_047687.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"hgvs_c": "n.*703A>C",
"hgvs_p": null,
"transcript": "ENST00000648359.1",
"protein_id": "ENSP00000497465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NALCN-AS1",
"gene_hgnc_id": 42743,
"hgvs_c": "n.206+6064T>G",
"hgvs_p": null,
"transcript": "ENST00000787138.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NALCN",
"gene_hgnc_id": 19082,
"dbsnp": "rs890448197",
"frequency_reference_population": 6.8405444e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84054e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2002876102924347,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.427,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0873,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.886,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000251127.11",
"gene_symbol": "NALCN",
"hgnc_id": 19082,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5083A>C",
"hgvs_p": "p.Thr1695Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000457843.1",
"gene_symbol": "NALCN-AS1",
"hgnc_id": 42743,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.753T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}