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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: 3-49016067-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49016067&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49016067,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001009996.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Phe450Ser",
"transcript": "NM_001009996.3",
"protein_id": "NP_001009996.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 543,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341949.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009996.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Phe450Ser",
"transcript": "ENST00000341949.9",
"protein_id": "ENSP00000344989.4",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 543,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001009996.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341949.9"
},
{
"aa_ref": "F",
"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": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Phe283Ser",
"transcript": "ENST00000440857.5",
"protein_id": "ENSP00000403770.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 386,
"cds_start": 848,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440857.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1330-7T>C",
"hgvs_p": null,
"transcript": "ENST00000441576.6",
"protein_id": "ENSP00000410623.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441576.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "n.1503T>C",
"hgvs_p": null,
"transcript": "ENST00000460505.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000460505.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "n.1049T>C",
"hgvs_p": null,
"transcript": "ENST00000467457.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000467457.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1346T>C",
"hgvs_p": "p.Phe449Ser",
"transcript": "ENST00000873682.1",
"protein_id": "ENSP00000543741.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 542,
"cds_start": 1346,
"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": "ENST00000873682.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Phe450Ser",
"transcript": "ENST00000969753.1",
"protein_id": "ENSP00000639812.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 542,
"cds_start": 1349,
"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": "ENST00000969753.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1340T>C",
"hgvs_p": "p.Phe447Ser",
"transcript": "ENST00000916246.1",
"protein_id": "ENSP00000586305.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 540,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916246.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Phe450Ser",
"transcript": "ENST00000969752.1",
"protein_id": "ENSP00000639811.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 538,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969752.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1331T>C",
"hgvs_p": "p.Phe444Ser",
"transcript": "ENST00000969754.1",
"protein_id": "ENSP00000639813.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 537,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969754.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Phe450Ser",
"transcript": "ENST00000969755.1",
"protein_id": "ENSP00000639814.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 533,
"cds_start": 1349,
"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": "ENST00000969755.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Phe283Ser",
"transcript": "NM_018114.6",
"protein_id": "NP_060584.3",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018114.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Phe283Ser",
"transcript": "ENST00000313778.9",
"protein_id": "ENSP00000323265.5",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313778.9"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.284T>C",
"hgvs_p": "p.Phe95Ser",
"transcript": "ENST00000438585.5",
"protein_id": "ENSP00000396650.2",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 183,
"cds_start": 284,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438585.5"
},
{
"aa_ref": "F",
"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": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Phe450Ser",
"transcript": "XM_047448436.1",
"protein_id": "XP_047304392.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 575,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448436.1"
},
{
"aa_ref": "F",
"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": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Phe450Ser",
"transcript": "XM_011533891.3",
"protein_id": "XP_011532193.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 558,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533891.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Phe450Ser",
"transcript": "XM_047448437.1",
"protein_id": "XP_047304393.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 543,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448437.1"
},
{
"aa_ref": "F",
"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": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Phe283Ser",
"transcript": "XM_006713219.3",
"protein_id": "XP_006713282.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 408,
"cds_start": 848,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713219.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Phe283Ser",
"transcript": "XM_047448438.1",
"protein_id": "XP_047304394.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 376,
"cds_start": 848,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448438.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1330-7T>C",
"hgvs_p": null,
"transcript": "NM_001276405.2",
"protein_id": "NP_001263334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276405.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DALRD3",
"gene_hgnc_id": 25536,
"hgvs_c": "c.1329+91T>C",
"hgvs_p": null,
"transcript": "ENST00000916245.1",
"protein_id": "ENSP00000586304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": null,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
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{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_018031.6",
"gene_symbol": "WDR6",
"hgnc_id": 12758,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*779A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}