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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: 13-101191935-AT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=101191935&ref=AT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM5",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NALCN",
"hgnc_id": 19082,
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_001350748.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM5,PP2",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6971,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 5217,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_052867.4",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"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": "C",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6971,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 5217,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000251127.11",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000470333.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "n.1841_1842delATinsGC",
"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": "ENST00000470333.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1767,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7058,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 5304,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350748.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"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": "C",
"aa_end": null,
"aa_length": 1767,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6958,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 5304,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675332.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"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": "C",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6848,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 5217,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350749.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"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": "C",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6842,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 5217,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858715.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"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": "C",
"aa_end": null,
"aa_length": 1710,
"aa_ref": "Y",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6828,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 5133,
"cds_start": 1661,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949519.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1661_1662delATinsGC",
"hgvs_p": "p.Tyr554Cys",
"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": "C",
"aa_end": null,
"aa_length": 1709,
"aa_ref": "Y",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6884,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 5130,
"cds_start": 1658,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350750.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1658_1659delATinsGC",
"hgvs_p": "p.Tyr553Cys",
"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": "C",
"aa_end": null,
"aa_length": 1709,
"aa_ref": "Y",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6761,
"cdna_start": 1771,
"cds_end": null,
"cds_length": 5130,
"cds_start": 1658,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350751.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1658_1659delATinsGC",
"hgvs_p": "p.Tyr553Cys",
"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": "C",
"aa_end": null,
"aa_length": 1709,
"aa_ref": "Y",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6842,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 5130,
"cds_start": 1658,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676315.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1658_1659delATinsGC",
"hgvs_p": "p.Tyr553Cys",
"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": "C",
"aa_end": null,
"aa_length": 1674,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6625,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 5025,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949518.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"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
},
{
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"aa_length": 1645,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6548,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 4938,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675150.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"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": "C",
"aa_end": null,
"aa_length": 801,
"aa_ref": "Y",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675802.1",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1745_1746delATinsGC",
"hgvs_p": "p.Tyr582Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501818.1",
"strand": false,
"transcript": "ENST00000675802.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "Y",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6925,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 5361,
"cds_start": 1802,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449336.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1802_1803delATinsGC",
"hgvs_p": "p.Tyr601Cys",
"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": "C",
"aa_end": null,
"aa_length": 1757,
"aa_ref": "Y",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6838,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 5274,
"cds_start": 1802,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011521067.3",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1802_1803delATinsGC",
"hgvs_p": "p.Tyr601Cys",
"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": "C",
"aa_end": null,
"aa_length": 1728,
"aa_ref": "Y",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6751,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 5187,
"cds_start": 1715,
"consequences": [
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],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011521069.3",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1715_1716delATinsGC",
"hgvs_p": "p.Tyr572Cys",
"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": "C",
"aa_end": null,
"aa_length": 1589,
"aa_ref": "Y",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6674,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 4770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017020536.3",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.1298_1299delATinsGC",
"hgvs_p": "p.Tyr433Cys",
"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": "C",
"aa_end": null,
"aa_length": 1483,
"aa_ref": "Y",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6066,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 4452,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017020537.2",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "c.980_981delATinsGC",
"hgvs_p": "p.Tyr327Cys",
"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": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000497170.5",
"gene_hgnc_id": 19082,
"gene_symbol": "NALCN",
"hgvs_c": "n.*939_*940delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502675.1",
"strand": false,
"transcript": "ENST00000497170.5",
"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"
],
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