← Back to variant description
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: 13-101055347-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=101055347&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NALCN",
"hgnc_id": 19082,
"hgvs_c": "c.5252G>T",
"hgvs_p": "p.Arg1751Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001350748.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "NALCN-AS1",
"hgnc_id": 42743,
"hgvs_c": "n.671C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000457843.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2628,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6282368302345276,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "R",
"aa_start": 1722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6971,
"cdna_start": 5400,
"cds_end": null,
"cds_length": 5217,
"cds_start": 5165,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_052867.4",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5165G>T",
"hgvs_p": "p.Arg1722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251127.11",
"protein_coding": true,
"protein_id": "NP_443099.1",
"strand": false,
"transcript": "NM_052867.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "R",
"aa_start": 1722,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6971,
"cdna_start": 5400,
"cds_end": null,
"cds_length": 5217,
"cds_start": 5165,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000251127.11",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5165G>T",
"hgvs_p": "p.Arg1722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052867.4",
"protein_coding": true,
"protein_id": "ENSP00000251127.6",
"strand": false,
"transcript": "ENST00000251127.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1767,
"aa_ref": "R",
"aa_start": 1751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7058,
"cdna_start": 5487,
"cds_end": null,
"cds_length": 5304,
"cds_start": 5252,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001350748.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5252G>T",
"hgvs_p": "p.Arg1751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337677.1",
"strand": false,
"transcript": "NM_001350748.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1767,
"aa_ref": "R",
"aa_start": 1751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6958,
"cdna_start": 5426,
"cds_end": null,
"cds_length": 5304,
"cds_start": 5252,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000675332.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5252G>T",
"hgvs_p": "p.Arg1751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501955.1",
"strand": false,
"transcript": "ENST00000675332.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "R",
"aa_start": 1722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6848,
"cdna_start": 5277,
"cds_end": null,
"cds_length": 5217,
"cds_start": 5165,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001350749.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5165G>T",
"hgvs_p": "p.Arg1722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337678.1",
"strand": false,
"transcript": "NM_001350749.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "R",
"aa_start": 1722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6842,
"cdna_start": 5274,
"cds_end": null,
"cds_length": 5217,
"cds_start": 5165,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000858715.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5165G>T",
"hgvs_p": "p.Arg1722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528774.1",
"strand": false,
"transcript": "ENST00000858715.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1710,
"aa_ref": "R",
"aa_start": 1694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6828,
"cdna_start": 5264,
"cds_end": null,
"cds_length": 5133,
"cds_start": 5081,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000949519.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5081G>T",
"hgvs_p": "p.Arg1694Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619578.1",
"strand": false,
"transcript": "ENST00000949519.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1709,
"aa_ref": "R",
"aa_start": 1693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6884,
"cdna_start": 5313,
"cds_end": null,
"cds_length": 5130,
"cds_start": 5078,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001350750.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5078G>T",
"hgvs_p": "p.Arg1693Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337679.1",
"strand": false,
"transcript": "NM_001350750.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1709,
"aa_ref": "R",
"aa_start": 1693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6761,
"cdna_start": 5190,
"cds_end": null,
"cds_length": 5130,
"cds_start": 5078,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001350751.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5078G>T",
"hgvs_p": "p.Arg1693Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337680.1",
"strand": false,
"transcript": "NM_001350751.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1709,
"aa_ref": "R",
"aa_start": 1693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6842,
"cdna_start": 5279,
"cds_end": null,
"cds_length": 5130,
"cds_start": 5078,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000676315.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5078G>T",
"hgvs_p": "p.Arg1693Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501603.1",
"strand": false,
"transcript": "ENST00000676315.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1674,
"aa_ref": "R",
"aa_start": 1658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6625,
"cdna_start": 5051,
"cds_end": null,
"cds_length": 5025,
"cds_start": 4973,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000949518.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.4973G>T",
"hgvs_p": "p.Arg1658Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619577.1",
"strand": false,
"transcript": "ENST00000949518.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1645,
"aa_ref": "R",
"aa_start": 1629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6548,
"cdna_start": 4984,
"cds_end": null,
"cds_length": 4938,
"cds_start": 4886,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000675150.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.4886G>T",
"hgvs_p": "p.Arg1629Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502680.1",
"strand": false,
"transcript": "ENST00000675150.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "R",
"aa_start": 1770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6925,
"cdna_start": 5354,
"cds_end": null,
"cds_length": 5361,
"cds_start": 5309,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_024449336.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5309G>T",
"hgvs_p": "p.Arg1770Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305104.1",
"strand": false,
"transcript": "XM_024449336.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1757,
"aa_ref": "R",
"aa_start": 1741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6838,
"cdna_start": 5267,
"cds_end": null,
"cds_length": 5274,
"cds_start": 5222,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011521067.3",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5222G>T",
"hgvs_p": "p.Arg1741Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519369.1",
"strand": false,
"transcript": "XM_011521067.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1728,
"aa_ref": "R",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6751,
"cdna_start": 5180,
"cds_end": null,
"cds_length": 5187,
"cds_start": 5135,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011521069.3",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.5135G>T",
"hgvs_p": "p.Arg1712Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519371.1",
"strand": false,
"transcript": "XM_011521069.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1589,
"aa_ref": "R",
"aa_start": 1573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6674,
"cdna_start": 5103,
"cds_end": null,
"cds_length": 4770,
"cds_start": 4718,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_017020536.3",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.4718G>T",
"hgvs_p": "p.Arg1573Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876025.1",
"strand": false,
"transcript": "XM_017020536.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1483,
"aa_ref": "R",
"aa_start": 1467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6066,
"cdna_start": 4495,
"cds_end": null,
"cds_length": 4452,
"cds_start": 4400,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_017020537.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.4400G>T",
"hgvs_p": "p.Arg1467Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876026.1",
"strand": false,
"transcript": "XM_017020537.2",
"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": 2846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000457843.1",
"gene_hgnc_id": 42743,
"gene_symbol": "NALCN-AS1",
"hgvs_c": "n.671C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000457843.1",
"transcript_support_level": 2
},
{
"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": 7105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000648359.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "n.*785G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497465.1",
"strand": false,
"transcript": "ENST00000648359.1",
"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": 2846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_047687.1",
"gene_hgnc_id": 42743,
"gene_symbol": "NALCN-AS1",
"hgvs_c": "n.671C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_047687.1",
"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": 7105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 45,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000648359.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "n.*785G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497465.1",
"strand": false,
"transcript": "ENST00000648359.1",
"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": 482,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000787138.1",
"gene_hgnc_id": 42743,
"gene_symbol": "NALCN-AS1",
"hgvs_c": "n.206+5982C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000787138.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs750952585",
"effect": "missense_variant",
"frequency_reference_population": 0.000006572634,
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657263,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 101055347,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.59,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001350748.2"
}
]
}