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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: X-11775029-GC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=11775029&ref=GC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 11775029,
"ref": "GC",
"alt": "A",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_078629.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1516_1517delGCinsA",
"hgvs_p": "p.Ala506fs",
"transcript": "NM_078629.4",
"protein_id": "NP_523353.2",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 521,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "ENST00000312196.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_078629.4"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1516_1517delGCinsA",
"hgvs_p": "p.Ala506fs",
"transcript": "ENST00000312196.10",
"protein_id": "ENSP00000312244.4",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 521,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": "NM_078629.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312196.10"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1513_1514delGCinsA",
"hgvs_p": "p.Ala505fs",
"transcript": "ENST00000647869.1",
"protein_id": "ENSP00000497615.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 520,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647869.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1480_1481delGCinsA",
"hgvs_p": "p.Ala494fs",
"transcript": "NM_001193270.2",
"protein_id": "NP_001180199.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 509,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193270.2"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1480_1481delGCinsA",
"hgvs_p": "p.Ala494fs",
"transcript": "ENST00000398527.7",
"protein_id": "ENSP00000381538.2",
"transcript_support_level": 2,
"aa_start": 494,
"aa_end": null,
"aa_length": 509,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398527.7"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1414_1415delGCinsA",
"hgvs_p": "p.Ala472fs",
"transcript": "ENST00000649130.1",
"protein_id": "ENSP00000497949.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 487,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649130.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1069_1070delGCinsA",
"hgvs_p": "p.Ala357fs",
"transcript": "NM_001282174.1",
"protein_id": "NP_001269103.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 372,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282174.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1069_1070delGCinsA",
"hgvs_p": "p.Ala357fs",
"transcript": "ENST00000361672.6",
"protein_id": "ENSP00000354562.2",
"transcript_support_level": 2,
"aa_start": 357,
"aa_end": null,
"aa_length": 372,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361672.6"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1069_1070delGCinsA",
"hgvs_p": "p.Ala357fs",
"transcript": "ENST00000649649.1",
"protein_id": "ENSP00000497137.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 372,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649649.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1069_1070delGCinsA",
"hgvs_p": "p.Ala357fs",
"transcript": "ENST00000649685.1",
"protein_id": "ENSP00000497496.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 372,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649685.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1069_1070delGCinsA",
"hgvs_p": "p.Ala357fs",
"transcript": "ENST00000650215.1",
"protein_id": "ENSP00000496944.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 372,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650215.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1018_1019delGCinsA",
"hgvs_p": "p.Ala340fs",
"transcript": "NM_006800.4",
"protein_id": "NP_006791.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 355,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006800.4"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1018_1019delGCinsA",
"hgvs_p": "p.Ala340fs",
"transcript": "ENST00000482871.6",
"protein_id": "ENSP00000498064.1",
"transcript_support_level": 3,
"aa_start": 340,
"aa_end": null,
"aa_length": 355,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482871.6"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1018_1019delGCinsA",
"hgvs_p": "p.Ala340fs",
"transcript": "ENST00000648013.1",
"protein_id": "ENSP00000497518.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 355,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648013.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1018_1019delGCinsA",
"hgvs_p": "p.Ala340fs",
"transcript": "ENST00000649078.1",
"protein_id": "ENSP00000498017.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 355,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649078.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1018_1019delGCinsA",
"hgvs_p": "p.Ala340fs",
"transcript": "ENST00000649271.1",
"protein_id": "ENSP00000496967.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 355,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649271.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1018_1019delGCinsA",
"hgvs_p": "p.Ala340fs",
"transcript": "ENST00000649602.1",
"protein_id": "ENSP00000498168.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 355,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649602.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1018_1019delGCinsA",
"hgvs_p": "p.Ala340fs",
"transcript": "ENST00000650628.1",
"protein_id": "ENSP00000496838.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 355,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650628.1"
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.1015_1016delGCinsA",
"hgvs_p": "p.Ala339fs",
"transcript": "ENST00000380693.8",
"protein_id": "ENSP00000370069.4",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 354,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380693.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "c.*42_*43delGCinsA",
"hgvs_p": null,
"transcript": "ENST00000648287.1",
"protein_id": "ENSP00000496861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSL3",
"gene_hgnc_id": 7370,
"hgvs_c": "n.*1049_*1050delGCinsA",
"hgvs_p": null,
"transcript": "ENST00000468149.5",
"protein_id": "ENSP00000418673.1",
"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": 1646,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468149.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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{
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],
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Intellectual disability",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}